Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
Journal of Korean Medical Science
;
: 317-320, 2010.
Artículo
en Inglés
| WPRIM
| ID: wpr-207481
ABSTRACT
Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hormona Paratiroidea
/
Linaje
/
Carbonato de Calcio
/
Análisis de Secuencia de ADN
/
Receptores Sensibles al Calcio
/
Conservadores de la Densidad Ósea
/
República de Corea
/
Heterocigoto
/
Hidroxicolecalciferoles
/
Hipocalcemia
Límite:
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2010
Tipo del documento:
Artículo
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