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Article

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

Gene - 15 Apr 2013

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

Abstract excerpt

Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. Additionally, the phenotype is modified by several genes nearby SMN1 in the 5q13 region. In this study, we analyzed mutations in SMN1 and quantified the modifying genes, including SMN2, NAIP, GTF2H2, and H4F5 by polymerase chain...

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Share to DNA Copy Number Variations
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to Sequence Deletion

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Share to Transcription Factor TFIIH

Source

Identifiers

PMID: 23352792
DOI: 10.1016/j.gene.2012.12.109

Genes

SMN1
NAIP
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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