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Article

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.

Journal of the neurological sciences - 15 Sept 2011

Chen Tai-Heng, Tzeng Ching-Cherng, Wang Chun-Chi, Wu Shou-Mei, Chang Jan-Gowth, Yang San-Nan, Hung Chih-Hsing, Jong Yuh-Jyh

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by programmed motoneuron death. The survival motor neuron 1 (SMN1) gene is an SMA-determining gene and SMN2 represents an SMA-modifying gene. Here, we applied capillary electrophoresis to quantify the SMN gene dosage in 163 normal individuals, 94 SMA patients and 138 of their parents. We further quantified exons 7 and 8 in SMN1 and SMN2....

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Source

Identifiers

PMID: 21705024
DOI: 10.1016/j.jns.2011.06.002

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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