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[Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation].

Zhonghua yi xue za zhi - 14 Feb 2017

Yang L, Cao Y Y, Qu Y J, Bai J L, Wang H, Jin Y W, Han Y L, Song F

Abstract excerpt

Objective: To detect the subtle variant of survival motor neuron gene 1(SMN1) by Sanger sequencing, and to assess the value of Sanger sequencing for the diagnosis of spinal muscular atrophy(SMA) with compound heterozygous mutation of SMN1. Methods: Fifty-two patients suspected SMA were recruited by the Capital Institute of Pediatrics from Jan.2014 to June.2016. PCR was used for amplifying exon7 of SMN1 and SMN2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Motor Neurons

Share to Multiplex Polymerase Chain Reaction

Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 28219127
DOI: 10.3760/cma.j.issn.0376-2491.2017.06.004

Genes

SMN1
SMN2

Provenance

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

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