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Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis
Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of so...
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Published in: | Orphanet journal of rare diseases 2024-01, Vol.19 (1), p.1-1, Article 1 |
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creator | Duan, Suying Luo, Haiyang Wang, Yunchao Jiang, Dongbin Liu, Jiajia Li, Jiaqi Zheng, Honglin Zhao, Taiqi Liu, Chenyang Zhang, Hang Mao, Chengyuan Zhang, Lei Xu, Yuming |
description | Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44 patients with RP. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood. Droplet digital polymerase chain reaction (ddPCR) was performed to screen low-prevalence somatic variants.
Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative.
We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results. |
doi_str_mv | 10.1186/s13023-023-03003-x |
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Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative.
We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-023-03003-x</identifier><identifier>PMID: 38167209</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Alleles ; Analysis ; Anemia ; Connective tissue diseases ; Development and progression ; Disease ; Diseases ; DNA sequencing ; Droplet digital PCR ; Dynamic monitoring ; Enzymes ; Genetic aspects ; Health aspects ; Inflammatory diseases ; Leukemia ; Medical research ; Medicine, Experimental ; Mutation ; Nucleotide sequencing ; Patients ; Peripheral blood ; Polychondritis ; Rare diseases ; Relapse ; Relapsing polychondritis ; Skin ; Somatic mutations ; UBA1 ; Vacuoles ; VEXAS</subject><ispartof>Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.1-1, Article 1</ispartof><rights>2024. The Author(s).</rights><rights>COPYRIGHT 2024 BioMed Central Ltd.</rights><rights>2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c598t-82a2ef9aee2570cd5cb1109fbafecb793620964717cf5f66955ada88f7141d653</citedby><cites>FETCH-LOGICAL-c598t-82a2ef9aee2570cd5cb1109fbafecb793620964717cf5f66955ada88f7141d653</cites><orcidid>0000-0003-2689-9897</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10762806/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2914305329?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,25732,27903,27904,36991,36992,44569,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38167209$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Duan, Suying</creatorcontrib><creatorcontrib>Luo, Haiyang</creatorcontrib><creatorcontrib>Wang, Yunchao</creatorcontrib><creatorcontrib>Jiang, Dongbin</creatorcontrib><creatorcontrib>Liu, Jiajia</creatorcontrib><creatorcontrib>Li, Jiaqi</creatorcontrib><creatorcontrib>Zheng, Honglin</creatorcontrib><creatorcontrib>Zhao, Taiqi</creatorcontrib><creatorcontrib>Liu, Chenyang</creatorcontrib><creatorcontrib>Zhang, Hang</creatorcontrib><creatorcontrib>Mao, Chengyuan</creatorcontrib><creatorcontrib>Zhang, Lei</creatorcontrib><creatorcontrib>Xu, Yuming</creatorcontrib><title>Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis</title><title>Orphanet journal of rare diseases</title><addtitle>Orphanet J Rare Dis</addtitle><description>Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44 patients with RP. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood. Droplet digital polymerase chain reaction (ddPCR) was performed to screen low-prevalence somatic variants.
Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative.
We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results.</description><subject>Alleles</subject><subject>Analysis</subject><subject>Anemia</subject><subject>Connective tissue diseases</subject><subject>Development and progression</subject><subject>Disease</subject><subject>Diseases</subject><subject>DNA sequencing</subject><subject>Droplet digital PCR</subject><subject>Dynamic monitoring</subject><subject>Enzymes</subject><subject>Genetic aspects</subject><subject>Health aspects</subject><subject>Inflammatory diseases</subject><subject>Leukemia</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Mutation</subject><subject>Nucleotide sequencing</subject><subject>Patients</subject><subject>Peripheral blood</subject><subject>Polychondritis</subject><subject>Rare diseases</subject><subject>Relapse</subject><subject>Relapsing polychondritis</subject><subject>Skin</subject><subject>Somatic mutations</subject><subject>UBA1</subject><subject>Vacuoles</subject><subject>VEXAS</subject><issn>1750-1172</issn><issn>1750-1172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkl1vFCEUhidGY2v1D3hhJvFGL6ZyYBjgytT6tUkTE7XeEoaBXTYzsIUZ3f33Mru1do0hhBN43hfO4RTFc0DnALx5k4AgTKr9JAiRavugOAVGUQXA8MN78UnxJKU1QjUliD8uTgiHhmEkTosf73deDU6XQ_BuDNH5ZRlsef3uAsoUBjXOR9OY1-BT6Xy5yaHxYyp_uXFVRtOrTZpFm9Dv9Cr4LrrRpafFI6v6ZJ7drmfF9ccP3y8_V1dfPi0uL64qTQUfK44VNlYoYzBlSHdUtwBI2FZZo1smSJMf2dQMmLbUNo2gVHWKc8ughq6h5KxYHHy7oNZyE92g4k4G5eR-I8SlVDHn0BsJmhjUWiWMprXtOMdIWWFVW7OWMKKy19uD12ZqB9PpnGVU_ZHp8Yl3K7kMPyUg1mCOmuzw6tYhhpvJpFEOLmnT98qbMCWJBSAQALjO6Mt_0HWYos-1mqmaIEqw-EstVc7AeRvyxXo2lReMcSRyQVCmzv9D5dGZ_LPBG-vy_pHg9ZEgM6PZjks1pSQX374es_jA6hhSisbeFQSQnNtQHtpQ7ufchnKbRS_ul_JO8qfvyG-uSte7</recordid><startdate>20240102</startdate><enddate>20240102</enddate><creator>Duan, Suying</creator><creator>Luo, Haiyang</creator><creator>Wang, Yunchao</creator><creator>Jiang, Dongbin</creator><creator>Liu, Jiajia</creator><creator>Li, Jiaqi</creator><creator>Zheng, Honglin</creator><creator>Zhao, Taiqi</creator><creator>Liu, Chenyang</creator><creator>Zhang, Hang</creator><creator>Mao, Chengyuan</creator><creator>Zhang, Lei</creator><creator>Xu, Yuming</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0003-2689-9897</orcidid></search><sort><creationdate>20240102</creationdate><title>Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis</title><author>Duan, Suying ; Luo, Haiyang ; Wang, Yunchao ; Jiang, Dongbin ; Liu, Jiajia ; Li, Jiaqi ; Zheng, Honglin ; Zhao, Taiqi ; Liu, Chenyang ; Zhang, Hang ; Mao, Chengyuan ; Zhang, Lei ; Xu, Yuming</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c598t-82a2ef9aee2570cd5cb1109fbafecb793620964717cf5f66955ada88f7141d653</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Alleles</topic><topic>Analysis</topic><topic>Anemia</topic><topic>Connective tissue diseases</topic><topic>Development and progression</topic><topic>Disease</topic><topic>Diseases</topic><topic>DNA sequencing</topic><topic>Droplet digital PCR</topic><topic>Dynamic monitoring</topic><topic>Enzymes</topic><topic>Genetic aspects</topic><topic>Health aspects</topic><topic>Inflammatory diseases</topic><topic>Leukemia</topic><topic>Medical research</topic><topic>Medicine, Experimental</topic><topic>Mutation</topic><topic>Nucleotide sequencing</topic><topic>Patients</topic><topic>Peripheral blood</topic><topic>Polychondritis</topic><topic>Rare diseases</topic><topic>Relapse</topic><topic>Relapsing polychondritis</topic><topic>Skin</topic><topic>Somatic mutations</topic><topic>UBA1</topic><topic>Vacuoles</topic><topic>VEXAS</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Duan, Suying</creatorcontrib><creatorcontrib>Luo, Haiyang</creatorcontrib><creatorcontrib>Wang, Yunchao</creatorcontrib><creatorcontrib>Jiang, Dongbin</creatorcontrib><creatorcontrib>Liu, Jiajia</creatorcontrib><creatorcontrib>Li, Jiaqi</creatorcontrib><creatorcontrib>Zheng, Honglin</creatorcontrib><creatorcontrib>Zhao, Taiqi</creatorcontrib><creatorcontrib>Liu, Chenyang</creatorcontrib><creatorcontrib>Zhang, Hang</creatorcontrib><creatorcontrib>Mao, Chengyuan</creatorcontrib><creatorcontrib>Zhang, Lei</creatorcontrib><creatorcontrib>Xu, Yuming</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Orphanet journal of rare diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Duan, Suying</au><au>Luo, Haiyang</au><au>Wang, Yunchao</au><au>Jiang, Dongbin</au><au>Liu, Jiajia</au><au>Li, Jiaqi</au><au>Zheng, Honglin</au><au>Zhao, Taiqi</au><au>Liu, Chenyang</au><au>Zhang, Hang</au><au>Mao, Chengyuan</au><au>Zhang, Lei</au><au>Xu, Yuming</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis</atitle><jtitle>Orphanet journal of rare diseases</jtitle><addtitle>Orphanet J Rare Dis</addtitle><date>2024-01-02</date><risdate>2024</risdate><volume>19</volume><issue>1</issue><spage>1</spage><epage>1</epage><pages>1-1</pages><artnum>1</artnum><issn>1750-1172</issn><eissn>1750-1172</eissn><abstract>Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44 patients with RP. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood. Droplet digital polymerase chain reaction (ddPCR) was performed to screen low-prevalence somatic variants.
Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative.
We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>38167209</pmid><doi>10.1186/s13023-023-03003-x</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-2689-9897</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Analysis Anemia Connective tissue diseases Development and progression Disease Diseases DNA sequencing Droplet digital PCR Dynamic monitoring Enzymes Genetic aspects Health aspects Inflammatory diseases Leukemia Medical research Medicine, Experimental Mutation Nucleotide sequencing Patients Peripheral blood Polychondritis Rare diseases Relapse Relapsing polychondritis Skin Somatic mutations UBA1 Vacuoles VEXAS |
title | Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis |
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