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, M (author)
Other Authors: Yan, J (author), Temudo, T (author), Oliveira, G (author), Vieira, JP (author), Fen, J (author), Sommer, S (author), Maciel, P (author)
Format: article
Language:eng
Published: 2015
Subjects:
3' Untranslated Regions/genetics
Intellectual Disability/genetics
Methyl-CpG-Binding Protein 2/genetics
Rett Syndrome/genetics
Genetic Variation
Genotype
Methyl-CpG-Binding
Methyl-CpG-Binding Protein 2/metabolism
Mutation
Phenotype
Polymerase Chain Reaction
Female
HDE NEU PED
Online Access:http://hdl.handle.net/10400.17/2337
Country:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2337

Internet

http://hdl.handle.net/10400.17/2337

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