Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.

He, Jin; Zhang, Qi-Jie; Lin, Qi-Fang; Chen, Ya-Fang; Lin, Xiao-Zhen; Lin, Min-Ting; Murong, Shen-Xing; Wang, Ning; Chen, Wan-Jin

He, Jin; Zhang, Qi-Jie; Lin, Qi-Fang; Chen, Ya-Fang; Lin, Xiao-Zhen; Lin, Min-Ting; Murong, Shen-Xing; Wang, Ning; Chen, Wan-Jin.

Affiliation

He J; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, China.

Gene ; 518(2): 325-9, 2013 Apr 15.

Article in En | MEDLINE | ID: mdl-23352792

Subject(s)

Genetic Predisposition to Disease; Muscular Atrophy, Spinal/genetics; Adolescent; Adult; Child; Child, Preschool; DNA Copy Number Variations; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Mutation, Missense; Nerve Tissue Proteins/genetics; Neuronal Apoptosis-Inhibitory Protein/genetics; Phenotype; Sequence Deletion; Survival of Motor Neuron 1 Protein/genetics; Survival of Motor Neuron 2 Protein/genetics; Transcription Factor TFIIH/genetics; Transcription Factors/genetics; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Genetic Predisposition to Disease Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Gene Year: 2013 Type: Article Affiliation country: China

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