Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

经典 图书馆学 医学 历史 计算机科学
作者
Kimberly A. McAllister,Melanie A. Baldwin,Arun K. Thukkani,Carol J. Gallione,Jonathan Berg,Mary Porteous,Allan E. Guttmacher,Douglas A. Marchuk
出处
期刊:Human Molecular Genetics [Oxford University Press]
卷期号:4 (10): 1983-1985 被引量:110
标识
DOI:10.1093/hmg/4.10.1983
摘要

Journal Article Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function Get access Kimberly A. McAllister, Kimberly A. McAllister Search for other works by this author on: Oxford Academic PubMed Google Scholar Melanie A. Baldwin, Melanie A. Baldwin Search for other works by this author on: Oxford Academic PubMed Google Scholar Arun K. Thukkani, Arun K. Thukkani Search for other works by this author on: Oxford Academic PubMed Google Scholar Carol J. Gallione, Carol J. Gallione Search for other works by this author on: Oxford Academic PubMed Google Scholar Jonathan N. Berg, Jonathan N. Berg 1Department of Human Genetics, University of EdinburghWestern General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Mary E. Porteous, Mary E. Porteous 1Department of Human Genetics, University of EdinburghWestern General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Allan E. Guttmacher, Allan E. Guttmacher 2Department of Pediatrics, University of Vermont College of MedicineBurlington, VT 05401, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Douglas A. Marchuk Douglas A. Marchuk * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 10, October 1995, Pages 1983–1985, https://doi.org/10.1093/hmg/4.10.1983 Published: 01 October 1995 Article history Received: 08 May 1995 Revision received: 10 July 1995 Accepted: 10 July 1995 Published: 01 October 1995
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