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
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
shelemi发布了新的文献求助10
1秒前
田20202021完成签到,获得积分20
1秒前
SciGPT应助YYY采纳,获得10
1秒前
1秒前
2秒前
gxh发布了新的文献求助10
2秒前
2秒前
3秒前
zccjy发布了新的文献求助10
3秒前
3秒前
yoman完成签到,获得积分10
3秒前
耍酷问兰发布了新的文献求助10
4秒前
4秒前
斐嘿嘿发布了新的文献求助10
4秒前
芥子完成签到 ,获得积分10
4秒前
wjw发布了新的文献求助10
4秒前
个性的傲安完成签到,获得积分10
5秒前
SYY发布了新的文献求助10
5秒前
cossen完成签到,获得积分10
5秒前
Zhou发布了新的文献求助10
6秒前
槐x完成签到,获得积分10
6秒前
6秒前
李爱国应助Lm采纳,获得10
6秒前
6秒前
aniu发布了新的文献求助10
7秒前
zjw发布了新的文献求助10
7秒前
共享精神应助李哈哈采纳,获得10
8秒前
菜狗发布了新的文献求助10
8秒前
李海平发布了新的文献求助10
9秒前
9秒前
jlhu完成签到,获得积分10
9秒前
领导范儿应助伶俐雅柏采纳,获得10
9秒前
十二面体的碳块应助清颜采纳,获得20
9秒前
gxh完成签到,获得积分10
11秒前
风车车发布了新的文献求助10
11秒前
热情完成签到,获得积分10
11秒前
zccjy完成签到,获得积分20
11秒前
槐x发布了新的文献求助10
11秒前
12秒前
huangxiru918完成签到,获得积分20
12秒前
高分求助中
Les Mantodea de Guyane Insecta, Polyneoptera 2500
Technologies supporting mass customization of apparel: A pilot project 450
China—Art—Modernity: A Critical Introduction to Chinese Visual Expression from the Beginning of the Twentieth Century to the Present Day 430
Tip60 complex regulates eggshell formation and oviposition in the white-backed planthopper, providing effective targets for pest control 400
A Field Guide to the Amphibians and Reptiles of Madagascar - Frank Glaw and Miguel Vences - 3rd Edition 400
China Gadabouts: New Frontiers of Humanitarian Nursing, 1941–51 400
The Healthy Socialist Life in Maoist China, 1949–1980 400
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 物理 生物化学 纳米技术 计算机科学 化学工程 内科学 复合材料 物理化学 电极 遗传学 量子力学 基因 冶金 催化作用
热门帖子
关注 科研通微信公众号,转发送积分 3793818
求助须知:如何正确求助?哪些是违规求助? 3338647
关于积分的说明 10291005
捐赠科研通 3055082
什么是DOI,文献DOI怎么找? 1676342
邀请新用户注册赠送积分活动 804374
科研通“疑难数据库(出版商)”最低求助积分说明 761853