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Article

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

Human molecular genetics - 15 Jun 2003

Chan Yick Bun, Miguel-Aliaga Irene, Franks Chris, Thomas Natasha, Trülzsch Barbara, Sattelle David B, Davies Kay E, van den Heuvel Marcel

Abstract excerpt

Autosomal recessive spinal muscular atrophy (SMA) is linked to mutations in the survival motor neuron (SMN) gene. The SMN protein has been implicated at several levels of mRNA biogenesis and is expressed ubiquitously. Studies in various model organisms have shown that the loss of function of the SMN gene leads to embryonic lethality. The human contains two genes encoding for SMN protein and in patients one of...

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Source

Identifiers

PMID: 12783845
DOI: 10.1093/hmg/ddg157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neuromuscular defects in a Drosophila survival motor neuron gene mutant.PMID 12783845Read ↗

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