Condition: Butyrylcholinesterase deficiency


rs104893684 in BCHE gene and Butyrylcholinesterase deficiency PMID 1349196 1992 DNA mutations associated with the human butyrylcholinesterase J-variant.

PMID 8554068 1996 Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

PMID 15563885 2005 Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

PMID 9388484 1997 Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.

PMID 11928765 2002 Naturally occurring mutation, Asp70his, in human butyrylcholinesterase.

PMID 17700357 2007 Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.

PMID 18075469 2007 Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.

PMID 12881446 2003 Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

PMID 9694584 1998 Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.

PMID 10404729 1999 Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure.

PMID 2915989 1989 Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.

PMID 9191541 1997 Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

PMID 9110359 1997 Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.

PMID 7634491 1995 Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

PMID 16788378 2006 Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.

PMID 25264279 2014 "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium."

PMID 15781196 2005 Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.

PMID 25054547 2014 "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium."

PMID 9543549 1997 Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.

PMID 1306123 1992 Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.

PMID 15731589 2005 Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine.

PMID 27109752 2016 Activity and polymorphisms of butyrylcholinesterase in a Polish population.

PMID 7618741 1995 Prolonged response to succinylcholine: a new variant of plasma cholinesterase that is identified as normal by traditional phenotyping methods.

PMID 18300943 2008 Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.

PMID 12417112 2002 Novel mutation and multiple mutations found in the human butyrylcholinesterase gene.

PMID 8680411 1995 Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia.

PMID 10446378 1999 Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates.

PMID 20879632 2010 Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences.

PMID 17166756 2007 Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.

PMID 21029050 2011 Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy.

PMID 13437188 1957 A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers.

PMID 12724618 2003 Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study.

PMID 22053728 2011 Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports.

PMID 27551784 2016 Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.

PMID 23123771 2013 An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study.

PMID 21637541 2011 Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine.

PMID 21228368 2011 Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.

PMID 25448037 2015 Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.

PMID 9047329 1997 Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase.

PMID 18165570 2008 Rapid and accurate detection of atypical and Kalow variants in the butyrylcholinesterase gene using denaturing high performance liquid chromatography.

PMID 11575530 2001 Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing.

PMID 1415224 1992 Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.

PMID 2253336 1990 Phenotypic and molecular biological analysis of human butyrylcholinesterase variants.

PMID 9058093 1997 Familial hypocholinesterasemia found in a family and a new confirmed mutation.

PMID 11163024 2001 Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping.

PMID 16434405 2006 A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family.

PMID 22378569 2012 A patient with prolonged paralysis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.