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[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2013

Cao Yan-yan, Qu Yu-jin, Song Fang, Bai Jin-li, Jin Yu-wei, Wang Hong, Li Yan, Zhang Wen-hui

Abstract excerpt

OBJECTIVE: To detect homozygous deletions of survival motor neuron (SMN) gene with genomic DNA sequencing, and to assess the value of genetic testing for the diagnosis of spinal muscular atrophy (SMA). METHODS: Polymerase chain reaction (PCR) was used for amplifying SMN gene in 100 SMA patients and 110 controls. Four different bases (g.31957, g.32006, g.32154 and g.32269) between SMN1 and SMN2 within the...

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Identifiers

PMID: 23926006
DOI: 10.3760/cma.j.issn.1003-9406.2013.04.007

Genes

SMN1
SMN2

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