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Article

Genetic risk assessment in carrier testing for spinal muscular atrophy.

American journal of medical genetics - 15 Jul 2002

Ogino Shuji, Leonard Debra G B, Rennert Hanna, Ewens Warren J, Wilson Robert B

Abstract excerpt

As evidenced by the complete absence of a functionally critical sequence in exon 7, approximately 94% of individuals with clinically typical spinal muscular atrophy (SMA) lack both copies of the SMN1 gene at 5q13. Hence most carriers have only one copy of SMN1. Combining linkage and dosage analys...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12116201
DOI: 10.1002/ajmg.10425

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12116201-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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