Mutation analysis of SMN1 gene in patients with spinal muscular atrophy

Mutation analysis of SMN1 gene in patients with spinal muscular atrophy

OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. About 80% - 90% of SMA patients are missing both copies of SMN1, and 5% - 10% of patients are compound heterozygotes. In the present study, we aimed to analyze survival motor neuron 1 (SMN1) gene mutation in t...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 6 vom: 13. Juni, Seite 411-5
1. Verfasser: DU, Juan (VerfasserIn)
Weitere Verfasser: Qu, Yu-jin, Xiong, Hui, Li, Er-zhen, Jin, Yu-wei, Bai, Jin-li, Wang, Hong, Song, Fang
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Research Support, Non-U.S. Gov't SMN1 protein, human Survival of Motor Neuron 1 Protein