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Article

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

European journal of human genetics : EJHG - 1 Sept 2010

Sheng-Yuan Zhu, Xiong Fu, Chen Ya-Jun, Yan Ti-Zhen, Zeng Jian, Li Liang, Zhang Ya-Ni, Chen Wan-Qun, Bao Xin-Hua, Zhang Cheng, Xu Xiang-Min

Abstract excerpt

Screening for carriers of spinal muscular atrophy (SMA) is necessary for effective clinical/prenatal diagnosis and genetic counseling. However, a population-based study of SMA prevalence in mainland China has not yet been conducted. In this study, the copy number of survival motor neuron (SMN) genes was determined in 1712 newborn cord blood samples collected from southern China and from 25 core families, which...

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Source

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Identifiers

PMID: 20442745
DOI: 10.1038/ejhg.2010.54
PMCID: PMC2987421

Genes

SMN1
SMN2

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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