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Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
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Published in: | British journal of haematology 2013-09, Vol.162 (6), p.851-853 |
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container_end_page | 853 |
container_issue | 6 |
container_start_page | 851 |
container_title | British journal of haematology |
container_volume | 162 |
creator | Lorenzo, Felipe R. Yang, Chunzhang Lanikova, Lucie Butros, Linda Zhuang, Zhengping Prchal, Josef T. |
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doi_str_mv | 10.1111/bjh.12431 |
format | article |
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Yang, Chunzhang ; Lanikova, Lucie ; Butros, Linda ; Zhuang, Zhengping ; Prchal, Josef T.</creator><creatorcontrib>Lorenzo, Felipe R. ; Yang, Chunzhang ; Lanikova, Lucie ; Butros, Linda ; Zhuang, Zhengping ; Prchal, Josef T.</creatorcontrib><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/bjh.12431</identifier><identifier>PMID: 23772956</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford: Blackwell</publisher><subject>Adolescent ; Biological and medical sciences ; Child ; Diseases of red blood cells ; erythrocytosis ; Female ; genetics ; Hematologic and hematopoietic diseases ; Heterozygote ; Humans ; Male ; Medical sciences ; molecular haematology ; mutations ; polycythaemia ; Polycythemia - congenital ; Polycythemia - genetics ; Polycythemias ; Tumors ; Von Hippel-Lindau Tumor Suppressor Protein - genetics</subject><ispartof>British journal of haematology, 2013-09, Vol.162 (6), p.851-853</ispartof><rights>2013 John Wiley & Sons Ltd</rights><rights>2014 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4121-97f0dd34900d7d4f915e29007098fe977708778af8defb8701ad98f13350a47e3</citedby><cites>FETCH-LOGICAL-c4121-97f0dd34900d7d4f915e29007098fe977708778af8defb8701ad98f13350a47e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27720661$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23772956$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lorenzo, Felipe R.</creatorcontrib><creatorcontrib>Yang, Chunzhang</creatorcontrib><creatorcontrib>Lanikova, Lucie</creatorcontrib><creatorcontrib>Butros, Linda</creatorcontrib><creatorcontrib>Zhuang, Zhengping</creatorcontrib><creatorcontrib>Prchal, Josef T.</creatorcontrib><title>Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Diseases of red blood cells</subject><subject>erythrocytosis</subject><subject>Female</subject><subject>genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>molecular haematology</subject><subject>mutations</subject><subject>polycythaemia</subject><subject>Polycythemia - congenital</subject><subject>Polycythemia - genetics</subject><subject>Polycythemias</subject><subject>Tumors</subject><subject>Von Hippel-Lindau Tumor Suppressor Protein - genetics</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNp1kE9LwzAYh4Mobv45-AWkF8Ed6t63aZf0IuhQpwy9qCchZE26RrpmNNVRP72Zm1MP5hKS93mfH_wIOUI4Q3_6k9fiDKOY4hbpIh0kYYQxbpMuALAQIeYdsufcKwBSSHCXdCLKWJQmgy55ubfvugwyO5vbt0oFz6NxUOhG1_ajnVpnmjY4Xf49ev9Ff4ycP_cC6ZzNjGy0ChamKfx2NdWVaWQZzG3ZZm1TSD0z8oDs5LJ0-nB975On66vH4SgcP9zcDi_GYRZjhGHKclCKximAYirOU0x05B8MUp7rlDEGnDEuc650PuEMUCo_QUoTkDHTdJ-cr7zzt8lMq0xXTS1LMa_NTNatsNKIv5PKFGJq3wVlSZok3At6K0FWW-dqnW92EcSyYuErFl8Ve_b4d9iG_O7UAydrQLpMlnktq8y4H85jMBgsRf0VtzClbv9PFJd3o1X0J0Ujkig</recordid><startdate>201309</startdate><enddate>201309</enddate><creator>Lorenzo, Felipe R.</creator><creator>Yang, Chunzhang</creator><creator>Lanikova, Lucie</creator><creator>Butros, Linda</creator><creator>Zhuang, Zhengping</creator><creator>Prchal, Josef T.</creator><general>Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>201309</creationdate><title>Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia</title><author>Lorenzo, Felipe R. ; 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ispartof | British journal of haematology, 2013-09, Vol.162 (6), p.851-853 |
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language | eng |
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source | Wiley |
subjects | Adolescent Biological and medical sciences Child Diseases of red blood cells erythrocytosis Female genetics Hematologic and hematopoietic diseases Heterozygote Humans Male Medical sciences molecular haematology mutations polycythaemia Polycythemia - congenital Polycythemia - genetics Polycythemias Tumors Von Hippel-Lindau Tumor Suppressor Protein - genetics |
title | Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia |
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