Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients
- 21 July 2004
- journal article
- other
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 131 (1) , 106
- https://doi.org/10.1002/ajmg.a.30218
Abstract
No abstract availableKeywords
This publication has 4 references indexed in Scilit:
- Effects ofMECP2mutation type, location and X‐inactivation in modulating Rett syndrome phenotypeAmerican Journal of Medical Genetics Part A, 2002
- MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation patternEuropean Journal of Human Genetics, 2001
- Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and PolymorphismsAmerican Journal of Human Genetics, 2000
- Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypesAnnals of Neurology, 2000