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Article

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

European journal of medical genetics - 1 Jan 2000

Quenard Aline, Yilmaz Saliha, Fontaine Hervé, Bienvenu Thierry, Moncla Anne, des Portes Vincent, Rivier François, Mathieu Michèle, Raux Grégory, Jonveaux Philippe, Philippe Christophe

Abstract excerpt

The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutat...

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Source

Identifiers

PMID: 16829352
DOI: 10.1016/j.ejmg.2005.11.002

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16829352-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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