International Journal of Endocrinology and Metabolism. 2005; 3 (2): 104-108
en Inglés
| IMEMR
| ID: emr-70980
ABSTRACT
In the diagnosis of Pendred syndrome, assessment of individuals by molecular analysis of the SLC26A4 gene is recommended. Here we report a novel mutation in the SLC26A4 gene as revealed by denaturing high performance liquid chromatography [DHPLC] and DNA sequencing of the entire coding region of the SLC26A4 gene in five members of an Iranian family affected with Pendred syndrome. This is the first report of the molecular investigation of Pendred syndrome in Iran and the first report of the R79X mutation
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Pruebas de Función de la Tiroides
/
Reordenamiento Génico
/
Vestíbulo del Laberinto
/
Pérdida Auditiva
/
Mutación
Tipo de estudio:
Informe de Casos
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Int. J. Endocrinol. Metab.
Año:
2005
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