Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms-Reference-Cited by-同舟云学术

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

Published:2000-12 Issue:6 Volume:67 Page:1428-1436
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Buyse Inge M.,Fang Ping,Hoon Katherine T.,Amir Ruthie E.,Zoghbi Huda Y.,Roa Benjamin B.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome;Amano;J Hum Genet,2000

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. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location;Cheadle;Hum Mol Genet,2000

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