Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
Eur J Hum Genet
; 13(1): 124-6, 2005 Jan.
Article
em En
| MEDLINE
| ID: mdl-15367913
ABSTRACT
Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Proteínas Cromossômicas não Histona
/
Síndrome de Rett
/
Éxons
/
Regiões Promotoras Genéticas
/
Proteínas de Ligação a DNA
/
Mutação
Tipo de estudo:
Observational_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article