Characterization of a Novel BCHE “Silent” Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium - Delacour, Herve; Lushchekina, Sofya; Mabboux, Isabelle; Bousquet, Aurore; Ceppa, Franck; Schopfer, Lawrence M.; Lockridge, Oksana; Masson, Patrick (PloS one, 2014)
Keywords: Alleles; Analysis; Apnea; Apnea - chemically induced; Apnea - enzymology; Apnea - genetics; Base Sequence; Biocatalysis; Biology; Biology and Life Sciences; Bonding; Butyrylcholinesterase - chemistry; Butyrylcholinesterase - genetics; Butyrylcholinesterase - metabolism; Case reports; Catalysis; Chemical bonds; Denaturation; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Dynamic tests; Electrophoresis; Enzymes; Family Health; Female; Fluoride; Fluorides; Gels; Gene mutation; Genetic aspects; Genetics; Genotype & phenotype; Genotypes; Humans; Hydrogen; Hydrogen bonding; Infant, Newborn; Isoquinolines - adverse effects; Kinetics; Male; Medicine and Health Sciences; Molecular dynamics; Molecular Dynamics Simulation; Monomers; Muscle relaxants; Muscles; Mutation; Mutation, Missense; Neuromuscular Depolarizing Agents - adverse effects; Parent-child relations; Patients; Pedigree; Phenotypes; Point mutation; Protein denaturation; Proteins; Sleep disorders; Substrates; Succinylcholine - adverse effects; France; United States--US; Nebraska