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A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report

Abstract Background Butyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BChE deficiency are possibly in danger of postan...

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Principais autores: Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao, Guohong Deng
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-04-01
Serier:BMC Medical Genetics
Fag:
BCHE gene
Inherited butyrylcholinesterase deficiency
Genetic variant
Intellectual disability
Online adgang:http://link.springer.com/article/10.1186/s12881-018-0561-5
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