Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

"Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal...

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Detalles Bibliográficos
Autores Principales: Ke, Tie, Gomez, Cladelis Rubio, Mateus, Heidi Eliana, Castano, Juan Andres, Wang, Qing Kenneth
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2009
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22368
https://doi.org/10.1038/jhg.2009.92