A carregar...

Single-Amino-Acid Deletion in the RYR1 Gene, Associated with Malignant Hyperthermia Susceptibility and Unusual Contraction Phenotype

Malignant hyperthermia (MH) is an anesthetic-drug–induced, life-threatening hypermetabolic syndrome caused by abnormal calcium regulation in skeletal muscle. Often inherited as an autosomal dominant trait, MH has linkage to 30 different mutations in the RYR1 gene, which encodes a calcium-release–cha...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Sambuughin, Nyamkhishig, McWilliams, Shona, de Bantel, Astrid, Sivakumar, Kumaraswamy, Nelson, Thomas E.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/
https://ncbi.nlm.nih.gov/pubmed/11389482
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!