Splicing analysis of CYP11B1 mutation in a family affected with 11ß-hydroxylase deficiency: case report.

Charnwichai, Pattaranatcha; Yeetong, Patra; Suphapeetiporn, Kanya; Supornsilchai, Vichit; Sahakitrungruang, Taninee; Shotelersuk, Vorasuk

Charnwichai, Pattaranatcha; Yeetong, Patra; Suphapeetiporn, Kanya; Supornsilchai, Vichit; Sahakitrungruang, Taninee; Shotelersuk, Vorasuk.

Afiliación

Charnwichai P; Department of Bioscience, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Yeetong P; Excellence Center for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Suphapeetiporn K; Excellence Center for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Supornsilchai V; Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Sahakitrungruang T; Excellence Center for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Shotelersuk V; Center of Excellence for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, 10330, Thailand.

BMC Endocr Disord ; 16(1): 37, 2016 Jun 17.

Article en En | MEDLINE | ID: mdl-27316665

Asunto(s)

Hiperplasia Suprarrenal Congénita/genética; Empalme Alternativo; Mutación; Esteroide 11-beta-Hidroxilasa/genética; Preescolar; Codón sin Sentido; Análisis Mutacional de ADN; Femenino; Tamización de Portadores Genéticos; Humanos; Lactante; Masculino; Sitios de Empalme de ARN

Palabras clave

11ß-hydroxylase deficiency; CYP11B1; Case report; Congenital adrenal hyperplasia; Mutation; Splicing

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 11-beta-Hidroxilasa / Empalme Alternativo / Hiperplasia Suprarrenal Congénita / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: BMC Endocr Disord Año: 2016 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google