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Article

Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.

Annals of human genetics - 1 Mar 2008

Sasongko T H, Yusoff S, Lee M J, Nishioka E, Matsuo M, Nishio H

Abstract excerpt

Recently, the axonal-SMN (a-SMN) protein, which is generated by the gene responsible for spinal muscular atrophy (SMA), SMN, has been reported. Surprisingly, the a-SMN transcript includes the entire sequence of SMN intron 3. We had expected a high frequency of insertion/deletion mutations at a polyadenine tract in this intron, since simple repetitive sequence motifs are prone to mutations. Such mutations could...

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Source

Identifiers

PMID: 18269687
DOI: 10.1111/j.1469-1809.2007.00409.x

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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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Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.PMID 18269687Read ↗

A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA SplicingSemantic proximity Read ↗

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A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.Semantic proximity Read ↗

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).Semantic proximity Read ↗

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