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Article

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Human molecular genetics - 1 Apr 1995

Rodrigues N R, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies K E

Abstract excerpt

Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence shows that the candidate region contains multiple copies of genes and pseudogenes and is characterised by genome instability. We have analysed the frequency of deletions in a recently characterised candidate survival motor neuron (SMN) gene. Our data confirm previous analyses and show that...

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Share to Chromosomes, Human, Pair 5
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Motor Neurons

Share to Muscular Atrophy, Spinal

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 7633412
DOI: 10.1093/hmg/4.4.631

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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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Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.PMID 7633412Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Semantic proximity Read ↗

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.Semantic proximity Read ↗

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.Semantic proximity Read ↗

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Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.Semantic proximity Read ↗

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