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Article

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

Nature genetics - 1 Jan 1995

Thompson T G, DiDonato C J, Simard L R, Ingraham S E, Burghes A H, Crawford T O, Rochette C, Mendell J R, Wasmuth J J

Abstract excerpt

Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians (after cystic fibrosis). Childhood SMAs are divided into three groups (type I, II and III), which are allelic variants of the same locus in a region of approximately 850 kb in chromosome 5q12-q13, containing multiple copies of a novel, chromosome 5-specific repeat as well as many atypical pseudogenes. This...

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Identifiers

PMID: 7704025
DOI: 10.1038/ng0195-56

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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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A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.PMID 7704025Read ↗

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