Clinical Utility Gene Card for: Becker muscular dystrophy

被引：2
|
作者：
Coote, David [1 ,2 ]
Davis, Mark R. [3 ]
Cabrera, Macarena [4 ,5 ]
Needham, Merrilee [6 ,7 ,8 ,9 ]
Laing, Nigel G. [1 ,2 ,3 ]
Nowak, Kristen J. [1 ,2 ,10 ,11 ]
机构：
[1] Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Nedlands, WA 6009, Australia
[2] Harry Perkins Inst Med Res, QEII Med Ctr, QQ Block, Nedlands, WA 6009, Australia
[3] QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA 6009, Australia
[4] Hosp Univ Virgen del Rocio, Neurol Dept, Seville 41013, Spain
[5] Hosp Univ Virgen del Rocio, Inst Biomed Sevilla, Seville 41013, Spain
[6] Murdoch Univ, Inst Immunol & Infect Dis, Bldg 390,Discovery Way, Murdoch Perth, WA 6150, Australia
[7] Murdoch Univ, 90 South St, Murdoch, WA 6150, Australia
[8] Notre Dame Univ, 32 Mouat St, Fremantle, WA 6160, Australia
[9] Fiona Stanley Hosp, 11 Robin Warren Dr, Murdoch Perth, WA 6150, Australia
[10] Univ Western Australia, Sch Biomed Sci, Fac Hlth & Med Sci, Nedlands, WA 6009, Australia
[11] Dept Hlth, Div Publ & Aboriginal Hlth, Off Populat Hlth Genom, East Perth, WA 6004, Australia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 07期
基金：
澳大利亚研究理事会; 英国医学研究理事会;
关键词：
2 DISTINCT MUTATIONS; FEMALE CARRIERS; DUCHENNE; DIAGNOSIS; DELETION; DMD; REARRANGEMENTS; PROTEIN; FAMILY; ARRAY;
D O I：
10.1038/s41431-017-0064-4
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：1065 / 1071
页数：7
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