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Article

[A pilot study on spinal muscular atrophy carrier screening in Shanghai region using real-time PCR].

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

Qu Xiao-xing, Xiao Bing, Ji Xing, Jiang Wen-ting, Yang Zu-jing, Tao Jiong

Abstract excerpt

OBJECTIVE: To develop a screening program for spinal muscular atrophy (SMA) carriers, and to assess the carrier frequency and detection rate in Shanghai region. METHODS: Quantitative analysis of the SMN1 gene by real-time PCR was developed using specimens from 15 SMA patients and 76 SMA parents from 38 affected nuclear families. A pilot screening was carried out for 1741 asymptomatic pregnant women. Frequencies...

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Identifiers

PMID: 23450468
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.001

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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