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Article

[Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Tan Jianqiang, Zhang Xu, Wang Yuanliu, Luo Shiqiang, Yang Fanghua, Liu Bailing, Cai Ren

Abstract excerpt

OBJECTIVE: To screen for carriers of SMN1 gene mutation, which underlies spinal muscular atrophy (SMA), in 4931 pregnant women from Liuzhou region of Guangxi, and to determine the carrier rate. METHODS: Combined denaturing high-performance liquid chromatography (DHPLC) and multiple PCR techniques were used to detect the copy number of SMN1 gene. The carrier frequency was calculated. The spouse of the carrier was...

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Source

Identifiers

PMID: 30098235
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.001

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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