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Article

p.R270X MECP2 mutation and mortality in Rett syndrome.

European journal of human genetics : EJHG - 1 Nov 2005

Jian Le, Archer Hayley L, Ravine David, Kerr Alison, de Klerk Nick, Christodoulou John, Bailey Mark E S, Laurvick Crystal, Leonard Helen

Abstract excerpt

Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented. We hypothesised that increase...

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Source

Identifiers

PMID: 16077729
DOI: 10.1038/sj.ejhg.5201479

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16077729-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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