Loading…
Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population
Saved in:
| Published in: | Clinical genetics 2012-05, Vol.81 (5), p.495-497 |
|---|---|
| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | cdi_FETCH-LOGICAL-c4097-7036ad03dd151277cc4abaf94d28acb2e17389bd021e5f1ff575fd92a44c7c603 |
| container_end_page | 497 |
| container_issue | 5 |
| container_start_page | 495 |
| container_title | Clinical genetics |
| container_volume | 81 |
| creator | García-Rodríguez, B Alfonso, P Mallén, M Pocoví, M Giraldo, P |
| description | |
| doi_str_mv | 10.1111/j.1399-0004.2011.01757.x |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1015097050</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1015097050</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4097-7036ad03dd151277cc4abaf94d28acb2e17389bd021e5f1ff575fd92a44c7c603</originalsourceid><addsrcrecordid>eNqNkk2P0zAQhi0EYsvCX0AWEhKXBDu26xiJw6osAakUpAXt0XL9QV3SJNiJaP49TlOKxIm5jO153vF4xgBAjHKc7PU-x0SIDCFE8wJhnCPMGc-PD8DiEngIFsmJTOAluQJPYtynLeFMPAZXRTLEabkAbaUGvbMBGh-tivYNVLAbQxvtz8E22jffoQvzeoSqUfUYfYStg_3Owg3h6C6dGrimlH6Bh6FXvW-bCH1zAu461fi4g13bDfUp9BQ8cqqO9tnZX4Nv72-_rj5k68_Vx9XNOtMUCZ5xRJbKIGIMZrjgXGuqtsoJaopS6W1hMSel2BpUYMscdo5x5owoFKWa6yUi1-DVnLcLbao-9vLgo7Z1rRrbDlFihFm6CLEJffEPum-HkJ4apRAEU0TKCSpnSKfexGCd7II_qDCmTHKaidzLqfVyar2cZiJPM5HHJH1-zj9sD9ZchH-GkICXZ0BFrWoXVGp8_MsxXmBEROLeztwvX9vxvwuQq-p2WiV9Nut97O3xolfhh1zy9DPk_aaS7zb0E6tW97IivwFusbU_</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>993140380</pqid></control><display><type>article</type><title>Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population</title><source>Wiley</source><creator>García-Rodríguez, B ; Alfonso, P ; Mallén, M ; Pocoví, M ; Giraldo, P</creator><creatorcontrib>García-Rodríguez, B ; Alfonso, P ; Mallén, M ; Pocoví, M ; Giraldo, P</creatorcontrib><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2011.01757.x</identifier><identifier>PMID: 22220748</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Aged ; Alleles ; Biological and medical sciences ; Errors of metabolism ; European Continental Ancestry Group - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; Gaucher Disease - epidemiology ; Gaucher Disease - genetics ; Gene Frequency ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype ; Glucosylceramidase - genetics ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical genetics ; Medical sciences ; Metabolic diseases ; Middle Aged ; Molecular and cellular biology ; Mutation ; Spain - epidemiology</subject><ispartof>Clinical genetics, 2012-05, Vol.81 (5), p.495-497</ispartof><rights>2011 John Wiley & Sons A/S</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4097-7036ad03dd151277cc4abaf94d28acb2e17389bd021e5f1ff575fd92a44c7c603</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25721039$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22220748$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>García-Rodríguez, B</creatorcontrib><creatorcontrib>Alfonso, P</creatorcontrib><creatorcontrib>Mallén, M</creatorcontrib><creatorcontrib>Pocoví, M</creatorcontrib><creatorcontrib>Giraldo, P</creatorcontrib><title>Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><subject>Adult</subject><subject>Aged</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Errors of metabolism</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gaucher Disease - epidemiology</subject><subject>Gaucher Disease - genetics</subject><subject>Gene Frequency</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>Glucosylceramidase - genetics</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Spain - epidemiology</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><recordid>eNqNkk2P0zAQhi0EYsvCX0AWEhKXBDu26xiJw6osAakUpAXt0XL9QV3SJNiJaP49TlOKxIm5jO153vF4xgBAjHKc7PU-x0SIDCFE8wJhnCPMGc-PD8DiEngIFsmJTOAluQJPYtynLeFMPAZXRTLEabkAbaUGvbMBGh-tivYNVLAbQxvtz8E22jffoQvzeoSqUfUYfYStg_3Owg3h6C6dGrimlH6Bh6FXvW-bCH1zAu461fi4g13bDfUp9BQ8cqqO9tnZX4Nv72-_rj5k68_Vx9XNOtMUCZ5xRJbKIGIMZrjgXGuqtsoJaopS6W1hMSel2BpUYMscdo5x5owoFKWa6yUi1-DVnLcLbao-9vLgo7Z1rRrbDlFihFm6CLEJffEPum-HkJ4apRAEU0TKCSpnSKfexGCd7II_qDCmTHKaidzLqfVyar2cZiJPM5HHJH1-zj9sD9ZchH-GkICXZ0BFrWoXVGp8_MsxXmBEROLeztwvX9vxvwuQq-p2WiV9Nut97O3xolfhh1zy9DPk_aaS7zb0E6tW97IivwFusbU_</recordid><startdate>201205</startdate><enddate>201205</enddate><creator>García-Rodríguez, B</creator><creator>Alfonso, P</creator><creator>Mallén, M</creator><creator>Pocoví, M</creator><creator>Giraldo, P</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</general><scope>BSCLL</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201205</creationdate><title>Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population</title><author>García-Rodríguez, B ; Alfonso, P ; Mallén, M ; Pocoví, M ; Giraldo, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4097-7036ad03dd151277cc4abaf94d28acb2e17389bd021e5f1ff575fd92a44c7c603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Errors of metabolism</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gaucher Disease - epidemiology</topic><topic>Gaucher Disease - genetics</topic><topic>Gene Frequency</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genotype</topic><topic>Glucosylceramidase - genetics</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Spain - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>García-Rodríguez, B</creatorcontrib><creatorcontrib>Alfonso, P</creatorcontrib><creatorcontrib>Mallén, M</creatorcontrib><creatorcontrib>Pocoví, M</creatorcontrib><creatorcontrib>Giraldo, P</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>García-Rodríguez, B</au><au>Alfonso, P</au><au>Mallén, M</au><au>Pocoví, M</au><au>Giraldo, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2012-05</date><risdate>2012</risdate><volume>81</volume><issue>5</issue><spage>495</spage><epage>497</epage><pages>495-497</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>22220748</pmid><doi>10.1111/j.1399-0004.2011.01757.x</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-9163 |
| ispartof | Clinical genetics, 2012-05, Vol.81 (5), p.495-497 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1015097050 |
| source | Wiley |
| subjects | Adult Aged Alleles Biological and medical sciences Errors of metabolism European Continental Ancestry Group - genetics Female Fundamental and applied biological sciences. Psychology Gaucher Disease - epidemiology Gaucher Disease - genetics Gene Frequency General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Genotype Glucosylceramidase - genetics Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical genetics Medical sciences Metabolic diseases Middle Aged Molecular and cellular biology Mutation Spain - epidemiology |
| title | Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T21%3A22%3A23IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Gaucher%20disease:%20a%20pyrosequencing%20frequency%20analysis%20of%20the%20N370S%20and%20L444P%20mutations%20in%20the%20Spanish%20population&rft.jtitle=Clinical%20genetics&rft.au=Garc%C3%ADa-Rodr%C3%ADguez,%20B&rft.date=2012-05&rft.volume=81&rft.issue=5&rft.spage=495&rft.epage=497&rft.pages=495-497&rft.issn=0009-9163&rft.eissn=1399-0004&rft.coden=CLGNAY&rft_id=info:doi/10.1111/j.1399-0004.2011.01757.x&rft_dat=%3Cproquest_cross%3E1015097050%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c4097-7036ad03dd151277cc4abaf94d28acb2e17389bd021e5f1ff575fd92a44c7c603%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=993140380&rft_id=info:pmid/22220748&rfr_iscdi=true |