Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 144

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.

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.

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K.

Am J Hum Genet. 1990 Feb;46(2):329-39. Erratum in: Am J Hum Genet 1991 Jan;48(1):176.

8.

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA.

J Med Genet. 2000 Jun;37(6):434-41.

9.

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1971-9.

PMID:
12037007
10.

Molecular basis for Duarte and Los Angeles variant galactosemia.

Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ.

Am J Hum Genet. 1997 Feb;60(2):366-72.

11.

Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe.

Hughes NC, Janezic SA, McQueen KL, Jewett MA, Castranio T, Bell DA, Grant DM.

Pharmacogenetics. 1998 Feb;8(1):55-66.

PMID:
9511182
12.
13.

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.

Ishimura-Oka K, Semenkovich CF, Faustinella F, Goldberg IJ, Shachter N, Smith LC, Coleman T, Hide WA, Brown WV, Oka K, et al.

J Lipid Res. 1992 May;33(5):745-54.

14.

Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme.

Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H.

Blood. 1997 Jul 15;90(2):839-49.

15.
16.
17.

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
18.

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE.

Mol Vis. 1998 Oct 6;4:20.

19.

Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.

Coon H, Sobell J, Heston L, Sommer S, Hoff M, Holik J, Umar F, Robertson M, Reimherr F, Wender P, et al.

Am J Med Genet. 1994 Mar 15;54(1):12-20.

PMID:
8178835
20.

[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

Supplemental Content

Support Center