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Article

[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

He Sheng-xi, Ge Xiu-shan, Qu Yu-jin, Jin Yu-wei, Wang Hong, Bai Jin-li, Song Fang

Abstract excerpt

OBJECTIVE: To investigate the type and frequency of gene conversion from SMN1 to SMN2 in Chinese patients affected with spinal muscular atrophy (SMA), and to explore the relationship between gene conversion and clinical phenotype. METHODS: Non-homozygous deletion of SMN1 gene exon 8 was screened among 417 patients with SMN1 exon 7 homozygous deletions. To analyze and verify the types of gene conversion, genomic...

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Source

Identifiers

PMID: 22161088
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.002

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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