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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Detalhes bibliográficos
Autor principal: Santos, Mónica (author)
Outros Autores: Yan, Jin (author), Temudo, Teresa (author), Oliveira, Guiomar (author), Vieira, José Pedro (author), Fen, Jinong (author), Sommer, Steve (author), Maciel, P. (author)
Formato: article
Idioma:eng
Publicado em: 2008
Assuntos:
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
Texto completo:http://hdl.handle.net/1822/61623
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/61623

Texto Completo

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

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