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Article

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

Genomics - 1 Jul 2007

Shoubridge Cheryl, Cloosterman Desiree, Parkinson-Lawerence Emma, Brooks Douglas, Gécz Jozef

Abstract excerpt

The Aristaless-related homeobox gene (ARX) is one of the major genes causing X-linked mental retardation. We have been interested in the pathogenic mechanism of expanded polyalanine tract mutations in ARX. We showed that the c.304ins(GCG)7 mutation causing an increase from 16 to 23 alanines incre...

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Source

Identifiers

PMID: 17490853
DOI: 10.1016/j.ygeno.2007.03.005

Genes

ARX
IPO13
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17490853-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.PMID 17490853Read ↗

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