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Article

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Mailman Matthew D, Heinz John W, Papp Audrey C, Snyder Pamela J, Sedra Mary S, Wirth Brunhilde, Burghes Arthur H M, Prior Thomas W

Abstract excerpt

PURPOSE: This study describes SMN1 deletion frequency, carrier studies, and the effect of the modifying SMN2 gene on the spinal muscular atrophy (SMA) phenotype. A novel allele-specific intragenic mutation panel increases the sensitivity of SMN1 testing. METHODS: From 1995 to 2001, 610 patients were tested for SMN1 deletions and 399 relatives of probands have been tested for carrier status. SMN2 copy number was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11839954
DOI: 10.1097/00125817-200201000-00004

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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