Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)

Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accur...

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Bibliographic Details
Main Author: Shi, Jinxiu (author)
Other Authors: Shibayama, Akane (author), Liu, Qiang (author), Nguyen, Vu Q. (author), Feng, Jinong (author), Santos, Mónica (author), Temudo, Teresa (author), Maciel, P. (author), Sommer, Steve S. (author)
Format: article
Language:eng
Published: 2005
Subjects:
Rett syndrome
MECP2
RD-PCR
Heterozygous deletion
Online Access:http://hdl.handle.net/1822/2942
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/2942

Internet

http://hdl.handle.net/1822/2942

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