High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Human mutation 1998, Vol.11 (S1), p.S53-S54
Hauptverfasser: Polyakov, Alexander Vladimirovich, Dzenis, Irina Genrikhovna, Baharev, Vladimir Anatol'Evich, Evgrafov, Oleg Vadimovich
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page S54
container_issue S1
container_start_page S53
container_title Human mutation
container_volume 11
creator Polyakov, Alexander Vladimirovich
Dzenis, Irina Genrikhovna
Baharev, Vladimir Anatol'Evich
Evgrafov, Oleg Vadimovich
description
doi_str_mv 10.1002/humu.1380110118
format Article
fullrecord <record><control><sourceid>istex_cross</sourceid><recordid>TN_cdi_crossref_primary_10_1002_humu_1380110118</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>ark_67375_WNG_NGZMHLW3_F</sourcerecordid><originalsourceid>FETCH-LOGICAL-c2788-fcf8cf68c3fd03762d73e6687c22cc9f3a60881e054fb70f906af75a9e0943543</originalsourceid><addsrcrecordid>eNqFUF1LwzAUDaL4_eyTkD9QlzRtk-CTiNuETUEcgi8hS29ctGtr0uL66i-3ZaL4JBy4h3s-Hg5CZ5RcUELi0apdtxeUCUJpD7GDDimRIuq1ZHfgqYw4l8kBOgrhlRAi0pTto32ZpDFh8hB9Tt3LClsP7y2UpsOVxRqHunAG8LptdOOqErsBje9ZPBiaFeCYRqsu99WmK3QA_AIlDLaHNgSnsanaIsdLwLX2TdFh2NSFdiX0v67vt1Vb5uAxWAumOUF7VhcBTr_vMVqMbx6vp9HsfnJ7fTWLTMyFiKyxwthMGGZzwngW55xBlglu4tgYaZnOiBAUSJrYJSdWkkxbnmoJRCYsTdgxGm17ja9C8GBV7d1a-05RooYx1TCm-h2zT5xvE3W7XEP-4_9er9cvt_qHK6D7r05NF_PFn_Zom3ahgc1PWvs3lXHGU_V0N1F3k-f5dPbE1Jh9AaG9kfU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Polyakov, Alexander Vladimirovich ; Dzenis, Irina Genrikhovna ; Baharev, Vladimir Anatol'Evich ; Evgrafov, Oleg Vadimovich</creator><creatorcontrib>Polyakov, Alexander Vladimirovich ; Dzenis, Irina Genrikhovna ; Baharev, Vladimir Anatol'Evich ; Evgrafov, Oleg Vadimovich</creatorcontrib><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.1380110118</identifier><identifier>PMID: 9452039</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Alternative Splicing - genetics ; Deoxyribonucleases, Type II Site-Specific - metabolism ; DNA - genetics ; DNA - metabolism ; Family Health ; Female ; Founder Effect ; Gene Frequency ; Heterozygote ; Homozygote ; Humans ; Introns - genetics ; Male ; Mutation ; Pedigree ; Point Mutation ; Russia ; Steroid 21-Hydroxylase - genetics</subject><ispartof>Human mutation, 1998, Vol.11 (S1), p.S53-S54</ispartof><rights>Copyright © 1998 Wiley‐Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2788-fcf8cf68c3fd03762d73e6687c22cc9f3a60881e054fb70f906af75a9e0943543</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.1380110118$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.1380110118$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4010,27900,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9452039$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Polyakov, Alexander Vladimirovich</creatorcontrib><creatorcontrib>Dzenis, Irina Genrikhovna</creatorcontrib><creatorcontrib>Baharev, Vladimir Anatol'Evich</creatorcontrib><creatorcontrib>Evgrafov, Oleg Vadimovich</creatorcontrib><title>High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><subject>Alternative Splicing - genetics</subject><subject>Deoxyribonucleases, Type II Site-Specific - metabolism</subject><subject>DNA - genetics</subject><subject>DNA - metabolism</subject><subject>Family Health</subject><subject>Female</subject><subject>Founder Effect</subject><subject>Gene Frequency</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Introns - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Russia</subject><subject>Steroid 21-Hydroxylase - genetics</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUF1LwzAUDaL4_eyTkD9QlzRtk-CTiNuETUEcgi8hS29ctGtr0uL66i-3ZaL4JBy4h3s-Hg5CZ5RcUELi0apdtxeUCUJpD7GDDimRIuq1ZHfgqYw4l8kBOgrhlRAi0pTto32ZpDFh8hB9Tt3LClsP7y2UpsOVxRqHunAG8LptdOOqErsBje9ZPBiaFeCYRqsu99WmK3QA_AIlDLaHNgSnsanaIsdLwLX2TdFh2NSFdiX0v67vt1Vb5uAxWAumOUF7VhcBTr_vMVqMbx6vp9HsfnJ7fTWLTMyFiKyxwthMGGZzwngW55xBlglu4tgYaZnOiBAUSJrYJSdWkkxbnmoJRCYsTdgxGm17ja9C8GBV7d1a-05RooYx1TCm-h2zT5xvE3W7XEP-4_9er9cvt_qHK6D7r05NF_PFn_Zom3ahgc1PWvs3lXHGU_V0N1F3k-f5dPbE1Jh9AaG9kfU</recordid><startdate>1998</startdate><enddate>1998</enddate><creator>Polyakov, Alexander Vladimirovich</creator><creator>Dzenis, Irina Genrikhovna</creator><creator>Baharev, Vladimir Anatol'Evich</creator><creator>Evgrafov, Oleg Vadimovich</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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></search><sort><creationdate>1998</creationdate><title>High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect</title><author>Polyakov, Alexander Vladimirovich ; Dzenis, Irina Genrikhovna ; Baharev, Vladimir Anatol'Evich ; Evgrafov, Oleg Vadimovich</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2788-fcf8cf68c3fd03762d73e6687c22cc9f3a60881e054fb70f906af75a9e0943543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Alternative Splicing - genetics</topic><topic>Deoxyribonucleases, Type II Site-Specific - metabolism</topic><topic>DNA - genetics</topic><topic>DNA - metabolism</topic><topic>Family Health</topic><topic>Female</topic><topic>Founder Effect</topic><topic>Gene Frequency</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Introns - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Russia</topic><topic>Steroid 21-Hydroxylase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Polyakov, Alexander Vladimirovich</creatorcontrib><creatorcontrib>Dzenis, Irina Genrikhovna</creatorcontrib><creatorcontrib>Baharev, Vladimir Anatol'Evich</creatorcontrib><creatorcontrib>Evgrafov, Oleg Vadimovich</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Polyakov, Alexander Vladimirovich</au><au>Dzenis, Irina Genrikhovna</au><au>Baharev, Vladimir Anatol'Evich</au><au>Evgrafov, Oleg Vadimovich</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1998</date><risdate>1998</risdate><volume>11</volume><issue>S1</issue><spage>S53</spage><epage>S54</epage><pages>S53-S54</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9452039</pmid><doi>10.1002/humu.1380110118</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1059-7794
ispartof Human mutation, 1998, Vol.11 (S1), p.S53-S54
issn 1059-7794
1098-1004
language eng
recordid cdi_crossref_primary_10_1002_humu_1380110118
source MEDLINE; Wiley Online Library Journals Frontfile Complete
subjects Alternative Splicing - genetics
Deoxyribonucleases, Type II Site-Specific - metabolism
DNA - genetics
DNA - metabolism
Family Health
Female
Founder Effect
Gene Frequency
Heterozygote
Homozygote
Humans
Introns - genetics
Male
Mutation
Pedigree
Point Mutation
Russia
Steroid 21-Hydroxylase - genetics
title High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-13T00%3A27%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-istex_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=High%20frequency%20of%20a%20splice%20mutation%20in%20intron%202%20of%20the%2021-hydroxylase%20gene%20in%20Russia%20could%20be%20partly%20explained%20by%20a%20founder%20effect&rft.jtitle=Human%20mutation&rft.au=Polyakov,%20Alexander%20Vladimirovich&rft.date=1998&rft.volume=11&rft.issue=S1&rft.spage=S53&rft.epage=S54&rft.pages=S53-S54&rft.issn=1059-7794&rft.eissn=1098-1004&rft_id=info:doi/10.1002/humu.1380110118&rft_dat=%3Cistex_cross%3Eark_67375_WNG_NGZMHLW3_F%3C/istex_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/9452039&rfr_iscdi=true