Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation

In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MEC...

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Bibliographic Details
Main Author: Santos, Mónica (author)
Other Authors: Yan, Jin (author), Temudo, Teresa (author), Oliveira, Guiomar (author), Vieira, José Pedro (author), Fen, Jinong (author), Sommer, Steve (author), Maciel, P. (author)
Format: article
Language:eng
Published: 2008
Subjects:
3' Untranslated Regions
Female
Genetic Variation
Genotype
Humans
Intellectual Disability
Methyl-CpG-Binding Protein 2
Mutation, Missense
Phenotype
Polymerase Chain Reaction
RNA, Messenger
Rett Syndrome
Autism
Neurodevelopment
3'untranslated region
Ciências Médicas::Medicina Básica
Science & Technology
Online Access:http://hdl.handle.net/1822/61623
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/61623

Internet

http://hdl.handle.net/1822/61623

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