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Article

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

European journal of human genetics : EJHG - 1 Jan 2000

Taylor J E, Thomas N H, Lewis C M, Abbs S J, Rodrigues N R, Davies K E, Mathew C G

Abstract excerpt

Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor neuron gene (SMNt) in most patients, and deletion of the neuronal apoptosis inhibitory protein (NAIP) gene in the majority of severely affected patients. Analysis of SMNt has been complicated by the existence of a centromeric copy, SMNc, which is almost identical to SMNt but which can be...

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Identifiers

PMID: 9801871
DOI: 10.1038/sj.ejhg.5200210

Genes

NAIP

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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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Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.PMID 9801871Read ↗

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