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Article

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Human mutation - 1 Jan 2005

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B

Abstract excerpt

The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that...

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Share to Chromosomes, Human, Pair 5
Share to Cyclic AMP Response Element-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Ribonucleoproteins, Small Nuclear

Share to SMN Complex Proteins

Share to snRNP Core Proteins

Share to Survival of Motor Neuron 1 Protein

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Source

Identifiers

PMID: 15580564
DOI: 10.1002/humu.20111

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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