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[Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2012

Jin Yu-wei, Qu Yu-jin, Wang Hong, Bai Jin-li, Song Fang

Abstract excerpt

OBJECTIVE: To explore the applicability and limitation of PCR-restriction fragment length polymorphism (PCR-RFLP) method for genetic diagnosis of spinal muscular atrophy (SMA). METHODS: PCR-RFLP was applied to detect potential deletion in exons 7 and 8 of SMN1 gene in 935 suspected cases with SMA. Multiplex ligation-dependent probe amplification(MLPA) was carried out to analyze dosage alteration of SMN1 gene in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22311488
DOI: 10.3760/cma.j.issn.1003-9406.2012.01.009

Genes

SMN1

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