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Article

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Journal of medical genetics - 1 Jun 2006

Saxena A, de Lagarde D, Leonard H, Williamson S L, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic RTT patients. Until recently, the region encoding MECP2 was believed to comprise exons 2, 3, and 4 with the ATG start site located at the end of exon 2 (MeCP2_e2). METHODS: Recent reports of another mRNA transcript transcribed from exon 1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16155192
DOI: 10.1136/jmg.2005.036244
PMCID: PMC2593027

Genes

MECP2

Provenance

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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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.PMID 16155192Read ↗

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