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Article

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

European journal of human genetics : EJHG - 1 Jan 2012

Sugarman Elaine A, Nagan Narasimhan, Zhu Hui, Akmaev Viatcheslav R, Zhou Zhaoqing, Rohlfs Elizabeth M, Flynn Kerry, Hendrickson Brant C, Scholl Thomas, Sirko-Osadsa Deborah Alexa, Allitto Bernice A

Abstract excerpt

Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21811307
DOI: 10.1038/ejhg.2011.134
PMCID: PMC3234503

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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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