Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 366-369, 2014.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-269471
Biblioteca responsável:
WPRO
ABSTRACT
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). The patient's mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Monoéster Fosfórico Hidrolases
/
Mutação de Sentido Incorreto
/
Genética
/
Síndrome Oculocerebrorrenal
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2014
Tipo de documento:
Artigo