×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.
17700357
2007
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Familial hypocholinesterasemia found in a family and a new confirmed mutation.
9058093
1997
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family.
16434405
2006
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping.
11163024
2001
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
25054547
2014
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.
8554068
1996
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.
21228368
2011
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.
7634491
1995
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.
9543549
1997
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.
16788378
2006
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.
18300943
2008
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.
27551784
2016
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.
9191541
1997
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.
9191541
1997
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
15781196
2005
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
12881446
2003
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
15781196
2005
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study.
12724618
2003
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.
2915989
1989
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences.
20879632
2010
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
25054547
2014
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
15563885
2005
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
1415224
1992
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis.
1611188
1992
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
CLINVAR
Phenotypic and molecular biological analysis of human butyrylcholinesterase variants.
2253336
1990