rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.
|
2915989 |
1989 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
DNA mutations associated with the human butyrylcholinesterase J-variant.
|
1349196 |
1992 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.
|
1306123 |
1992 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.
|
7634491 |
1995 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.
|
8554068 |
1996 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.
|
9388484 |
1997 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.
|
9110359 |
1997 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.
|
9191541 |
1997 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.
|
9543549 |
1997 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.
|
9694584 |
1998 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure.
|
10404729 |
1999 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Naturally occurring mutation, Asp70his, in human butyrylcholinesterase.
|
11928765 |
2002 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
|
12881446 |
2003 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
|
15781196 |
2005 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
|
15563885 |
2005 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.
|
16788378 |
2006 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.
|
17700357 |
2007 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.
|
18075469 |
2007 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium."
|
25054547 |
2014 |
rs148170012
|
|
Butyrylcholinesterase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium."
|
25264279 |
2014 |