Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication-Reference-Cited by-同舟云学术

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Published:2004 Issue:2 Volume:24 Page:172-177
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ariani Francesca,Mari Francesca,Pescucci Chiara,Longo Ilaria,Bruttini Mirella,Meloni Ilaria,Hayek Giuseppe,Rocchi Raffaele,Zappella Michele,Renieri Alessandra

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Real-time quantitative polymerase chain reaction

2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

3. MECP2 mutations account for most cases of typical forms of Rett syndrome

4. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients

5. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

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