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Items: 1 to 20 of 124

1.

DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN.

Am J Hum Genet. 1992 May;50(5):1086-103.

2.

DNA mutations associated with the human butyrylcholinesterase J-variant.

Bartels CF, James K, La Du BN.

Am J Hum Genet. 1992 May;50(5):1104-14.

3.

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

Jensen FS, Bartels CF, La Du BN.

Pharmacogenetics. 1992 Oct;2(5):234-40.

PMID:
1306123
4.

Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.

Primo-Parmo SL, Lightstone H, La Du BN.

Pharmacogenetics. 1997 Feb;7(1):27-34.

PMID:
9110359
5.

Phenotypic and molecular biological analysis of human butyrylcholinesterase variants.

La Du BN, Bartels CF, Nogueira CP, Hajra A, Lightstone H, Van der Spek A, Lockridge O.

Clin Biochem. 1990 Oct;23(5):423-31.

PMID:
2253336
6.

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

Nogueira CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM, Lightstone H, Van der Spek AF, Lockridge O, La Du BN.

Am J Hum Genet. 1992 Oct;51(4):821-8.

7.

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

McGuire MC, Nogueira CP, Bartels CF, Lightstone H, Hajra A, Van der Spek AF, Lockridge O, La Du BN.

Proc Natl Acad Sci U S A. 1989 Feb;86(3):953-7.

8.

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

Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K.

Clin Chim Acta. 1995 Feb 28;235(1):41-57.

PMID:
7634491
9.

An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes.

Simeon-Rudolf V, Kovarik Z, Skrinjarić-Spoljar M, Evans RT.

Chem Biol Interact. 1999 May 14;119-120:159-64.

PMID:
10421449
10.

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

Gätke MR, Bundgaard JR, Viby-Mogensen J.

Pharmacogenet Genomics. 2007 Nov;17(11):995-9.

PMID:
18075469
12.

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

Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN.

Am J Hum Genet. 1996 Jan;58(1):52-64.

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15.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
16.

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

Lando G, Mosca A, Bonora R, Azzario F, Penco S, Marocchi A, Panteghini M, Patrosso MC.

Pharmacogenetics. 2003 May;13(5):265-70.

PMID:
12724618
17.

Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).

Nogueira CP, McGuire MC, Graeser C, Bartels CF, Arpagaus M, Van der Spek AF, Lightstone H, Lockridge O, La Du BN.

Am J Hum Genet. 1990 May;46(5):934-42.

18.

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

Gätke MR, Ostergaard D, Bundgaard JR, Varin F, Viby-Mogensen J.

Anesthesiology. 2001 Sep;95(3):600-6.

PMID:
11575530
19.

Mutations in MYOC gene of Indian primary open angle glaucoma patients.

Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K.

Mol Vis. 2002 Nov 15;8:442-8.

20.

Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism.

Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E, Weinshilboum R.

DNA Cell Biol. 1996 Jan;15(1):17-30.

PMID:
8561894
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