Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

面肩肱型肌营养不良 医学遗传学 老年学 医学 经典 社会学 历史 图书馆学 肌营养不良 遗传学 生物 内科学 计算机科学 基因
作者
Peter Lunt,Philip Jardine,Manuela C. Koch,Julie Maynard,Michael J. Osborn,Maggie Williams,Peter S. Harper,Meena Upadhyaya
出处
期刊:Human Molecular Genetics [Oxford University Press]
卷期号:4 (5): 951-958 被引量:191
标识
DOI:10.1093/hmg/4.5.951
摘要

Journal Article Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Get access Peter W. Lunt, Peter W. Lunt * 1Clinical Genetics Department, Institute of Child Health, Bristol Childrens Hospital, Bristol BS2 8BJ, UK2Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Philip E. Jardine, Philip E. Jardine 1Clinical Genetics Department, Institute of Child Health, Bristol Childrens Hospital, Bristol BS2 8BJ, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Manuela C. Koch, Manuela C. Koch 3Medizinsches Zentrum fur Humangenetik, Philipps Universitat, Marburg 35033, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Julie Maynard, Julie Maynard 2Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Michael Osborn, Michael Osborn 2Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Maggie Williams, Maggie Williams 4Department of Clinical Chemistry, Southmead Hospital, Bristol BS10 5NB, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Peter S. Harper, Peter S. Harper 2Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Meena Upadhyaya Meena Upadhyaya 2Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 5, May 1995, Pages 951–958, https://doi.org/10.1093/hmg/4.5.951 Published: 01 May 1995 Article history Received: 09 January 1995 Revision received: 03 March 1995 Accepted: 03 March 1995 Published: 01 May 1995

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