The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy | Zendy

Boglárka Bánsági | Zendy; Helen Griffin | Zendy; Venkateswaran Ramesh | Zendy; Jennifer Duff | Zendy; Angela Pyle | Zendy; Patrick F. Chinnery | Zendy; Rita Horváth | Zendy

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The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy

Author(s) -

Boglárka Bánsági,

Helen Griffin,

Venkateswaran Ramesh,

Jennifer Duff,

Angela Pyle,

Patrick F. Chinnery,

Rita Horváth

Publication year - 2015

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awv159

Subject(s) - missense mutation , genetics , haplotype , proband , mutation , biology , pedigree chart , population , allele , medicine , gene , environmental health

1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 3 Department of Paediatric Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hospitals NHS Trust, Newcastle upon Tyne, UK

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