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Results: 1 to 20 of 113

1.

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.

PMID:
2339692
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

[Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese].

Hidaka K, Iuchi I, Yamasaki T, Ohhara M, Shoda T, Primo-Parmo S, Ladu BN.

Rinsho Byori. 1992 May;40(5):535-40. Japanese.

PMID:
1507480
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
2915989
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genetic variants of human serum cholinesterase influence metabolism of the muscle relaxant succinylcholine.

Lockridge O.

Pharmacol Ther. 1990;47(1):35-60. Review.

PMID:
2195556
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
1570838
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis.

Hada T, Muratani K, Ohue T, Imanishi H, Moriwaki Y, Itoh M, Amuro Y, Higashino K.

Intern Med. 1992 Mar;31(3):357-62.

PMID:
1611188
[PubMed - indexed for MEDLINE]
Free Article
9.

[Determination of gene mutation of silent serum cholinesterase and its epidemiologic characters in the Japanese].

Hidaka K, Iuchi I.

Rinsho Byori. 1995 Aug;43(8):786-91. Japanese.

PMID:
7474437
[PubMed - indexed for MEDLINE]
10.

Familial hypocholinesterasemia found in a family and a new confirmed mutation.

Liu W, Hada T, Fukui K, Imanishi H, Matsuoka N, Iwasaki A, Higashino K.

Intern Med. 1997 Jan;36(1):9-13.

PMID:
9058093
[PubMed - indexed for MEDLINE]
Free Article
11.

[Gene analysis of human cholinesterase variants].

Muratani K, Hada T, Higashino K.

Nihon Rinsho. 1993 Feb;51(2):495-500. Review. Japanese.

PMID:
8464162
[PubMed - indexed for MEDLINE]
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.

PMID:
8554068
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Amino acid sequence of the active site of human serum cholinesterase from usual, atypical, and atypical-silent genotypes.

Lockridge O, La Du BN.

Biochem Genet. 1986 Jun;24(5-6):485-98.

PMID:
3741370
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
1415224
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
[PubMed - indexed for MEDLINE]
16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
[PubMed - indexed for MEDLINE]
17.

A family with hereditary serum cholinesterase deficiency.

Hirasaki S, Koide N, Ujike K, Yamamoto H, Fujita Y, Tanigawa T.

Intern Med. 1995 Jul;34(7):632-5.

PMID:
7496072
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K.

Am J Hum Genet. 1994 Dec;55(6):1113-21.

PMID:
7977369
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Determination of ABO glycosyltransferase genotypes by use of polymerase chain reaction and restriction enzymes.

Stroncek DF, Konz R, Clay ME, Houchins JP, McCullough J.

Transfusion. 1995 Mar;35(3):231-40.

PMID:
7878716
[PubMed - indexed for MEDLINE]

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