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Article

Gene deletions in spinal muscular atrophy.

Journal of medical genetics - 1 Feb 1996

Rodrigues N R, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies K E

Abstract excerpt

Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA). Although affected subjects show deletions of these genes, these deletions can lead to either a very mild or a severe phenotype. We have analysed a large number of clinically well defined patients, carriers, and normal controls to assess the frequency and extent of deletions encompassing both of these...

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Identifiers

PMID: 8929942
DOI: 10.1136/jmg.33.2.93
PMCID: PMC1051831

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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