Clinical utility gene card for: Angelman Syndrome

被引:26
作者
Buiting, Karin [1 ]
Clayton-Smith, Jill [2 ]
Driscoll, Daniel J. [3 ]
Gillessen-Kaesbach, Gabriele [4 ]
Kanber, Deniz [1 ]
Schwinger, Eberhard [4 ]
Williams, Charles [3 ]
Horsthemke, Bernhard [1 ]
机构
[1] Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, D-45122 Essen, Germany
[2] St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 0JH, Lancs, England
[3] Univ Florida, Coll Med, Dept Pediat, Div Genet & Metab, Gainesville, FL USA
[4] Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany
关键词
D O I
10.1038/ejhg.2014.93
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:e1 / e3
页数:3
相关论文
共 4 条
[1]   Prader-Willi Syndrome and Angelman Syndrome [J].
Buiting, Karin .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2010, 154C (03) :365-376
[2]   Molecular and Clinical Aspects of Angelman Syndrome [J].
Dagli, A. ;
Buiting, K. ;
Williams, C. A. .
MOLECULAR SYNDROMOLOGY, 2011, 2 (3-5) :100-112
[3]   Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes [J].
Ramsden, Simon C. ;
Clayton-Smith, Jill ;
Birch, Rachael ;
Buiting, Karin .
BMC MEDICAL GENETICS, 2010, 11
[4]  
Tan W- H, 2013, AM J MED GENET A, V9999, P1