A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Authors:	Myriam Vezain Bénédicte Gérard Séverine Drunat Benoît Funalot Séverine Fehrenbach Virginie N'Guyen‐Viet Jean‐Michel Vallat Thierry Frébourg Mario Tosi Alexandra Martins Pascale Saugier‐Veber

Affiliation:	1. Inserm U614, IFRMP, Institute for Biomedical Research, Rouen University Medical School, Rouen, France;2. Department of Genetics, Robert‐Debré Hospital, APHP, Paris, France;3. Department of Neurology, Limoges University Hospital, Limoges, France;4. Department of Genetics, Limoges University Hospital, Limoges, France;5. Department of Genetics, Rouen University Hospital, Rouen, France;6. Inserm U614, IFRMP, Institute for Biomedical Research, Rouen University Medical School, Rouen, FranceThese authors contributed equally to this work and should be considered joint last authors.

Abstract:

Keywords:	SMA SMN1 and SMN2 SMN1 exon 7 splicing hnRNP A1 acceptor splice site