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CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis

It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.

Detalles Bibliográficos
Autores principales: Rezkalla, Nader, Imam, Kamran, Marti, Miriam, Ip, Karen, Mashhadian, Ardavan, Liu, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562840/
https://www.ncbi.nlm.nih.gov/pubmed/33088529
http://dx.doi.org/10.1002/ccr3.3054