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https://hdl.handle.net/1822/61623
Título: | 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 |
Autor(es): | Santos, Mónica Yan, Jin Temudo, Teresa Oliveira, Guiomar Vieira, José Pedro Fen, Jinong Sommer, Steve Maciel, P. |
Palavras-chave: | 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 |
Data: | 2008 |
Editora: | IOS Press |
Revista: | Disease Markers |
Citação: | Santos, M., Yan, J., Temudo, T., et. al. (2008). 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. Disease markers, 24(6), 319-324. |
Resumo(s): | 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 MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/61623 |
DOI: | 10.1155/2008/738401 |
ISSN: | 0278-0240 |
Versão da editora: | https://www.hindawi.com/journals/dm/2008/738401/abs/ |
Arbitragem científica: | yes |
Acesso: | Acesso restrito UMinho |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Santos-2008-Analysis-of-highly-conserved-region.pdf Acesso restrito! | 1,19 MB | Adobe PDF | Ver/Abrir |