A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males-Reference-Cited by-同舟云学术

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

Published:2000-10 Issue:4 Volume:67 Page:982-985
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Meloni Ilaria,Bruttini Mirella,Longo Ilaria,Mari Francesca,Rizzolio Flavio,D'Adamo Patrizia,Denvriendt Koenraad,Fryns Jean-Pierre,Toniolo Daniela,Renieri Alessandra

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann Neurol,2000

3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

4. MECP2 mutations account for most cases of typical forms of Rett syndrome;Bienvenu;Hum Mol Genet,2000

5. A novel X-linked gene, G4.5, is responsible for Barth syndrome;Bione;Nat Genet,1996

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