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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse de mutations d'ADN
/
Phosphoric monoester hydrolases
/
Mutation faux-sens
/
Génétique
/
Syndrome de Lowe
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2014
Type:
Article
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