MECP2 Mutations and Rett Syndrome Phenotypes

MECP2 Mutations and Rett Syndrome Phenotypes

Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.

Bibliografische gegevens
Hoofdauteur:	J Gordon Millichap
Formaat:	Artikel
Taal:	English
Gepubliceerd in:	Pediatric Neurology Briefs Publishers 2000-05-01
Reeks:	Pediatric Neurology Briefs
Onderwerpen:	rett syndrome milder phenotypes x chromosome inactivation
Online toegang:	https://www.pediatricneurologybriefs.com/articles/1936

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