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.
Artículo
en Chino
| WPRIM
| ID: wpr-269471
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Monoéster Fosfórico Hidrolasas
/
Mutación Missense
/
Genética
/
Síndrome Oculocerebrorrenal
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2014
Tipo del documento:
Artículo
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