Výsledky vyhledávání - "Gale I Dempsey"

Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada

Autor: Barbara Morash, Duane L. Guernsey, Bassam A. Nassar, Meng H. Tan, Gale I Dempsey

Publikováno v: Clinical Biochemistry. 27:265-272

Familial defective apolipoprotein B-100 (FDB) is a genetic disorder resulting from a mutation in the apolipoprotein B-100 (apo B-100) gene, most frequently at position 3500, in which arginine is substituted for glutamine in the mature protein. This m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eafb4605613e7a03de4342c4d51b1ff
https://doi.org/10.1016/0009-9120(94)90028-0

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Relation of genetic polymorphisms of apolipoprotein E, angiotensin converting enzyme, apolipoprotein B-100, and glycoprotein IIIa and early-onset coronary heart disease

Autor: Lawrence M. Title, Richard C Cantrill, Susan Kirkland, Jenny Johnstone, Gale I Dempsey, Bassam A. Nassar, Blair J. O'Neill, Ekram Zayed, Jeremy Dunn, W. Carl Breckenridge, Meng-Hee Tan, David E. Johnstone, Iqbal Bata

Publikováno v: Clinical biochemistry. 32(4)

Objective: Apolipoprotein E (APOE) E4, apolipoprotein B-100 (APOB) Q3611 allele, the angiotensin converting enzyme (ACE) deletion (D) allele and glycoprotein IIIa (GP3A) P33 mutant allele are reported to predispose to early-onset coronary heart disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6eceb3ef89da954d793eef4c11aaf8c
https://pubmed.ncbi.nlm.nih.gov/10463820

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Relation of a common mutation in methylenetetrahydrofolate reductase to plasma homocysteine and early onset coronary artery disease

Autor: Blair J. O'Neill, Jeremy Dunn, Gale I Dempsey, Susan Kirkland, Michael C. MacDonald, Ekram Zayed, Lawrence M. Title, Iqbal Bata, Bassam A. Nassar, David E. Johnstone

Publikováno v: Clinical biochemistry. 31(2)

Objective: In the presence of low serum folate, mutant 5,10-methylenetetrahydrofolate reductase (MTHFR+ [A223V/C677T]) in the homozygous state (+/+), may predispose to higher plasma homocysteine (tHct) levels and coronary artery disease (CAD). To det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11801678d9e82a4d06a48e6595da4cd0
https://pubmed.ncbi.nlm.nih.gov/9622772

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Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian 'foreign Protestant' population with acute intermittent porphyria: a founder effect

Autor: M. Moss, V E Sangalang, W E Schreiber, S T Greene-Davis, J P Welch, O E Mann, P E Neumann, Gale I Dempsey, G R Langley, Bassam A. Nassar

Publikováno v: Clinical biochemistry. 30(8)

Objectives: Acute intermittent porphyria (AIP) is caused by mutations in the porphobilinogen deaminase (PBGD) gene that disrupt the function of the enzyme. Many mutations that lead to decreased PBGD activity have been described. An Arg to Trp substit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2df4d35a238a86c1599317982be97212
https://pubmed.ncbi.nlm.nih.gov/9455613

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Detection of familial defective alolipo-protein B-100 among patients diagnosed with heterozygous familial hyper-cholesterolemia in Maritime Canada

Autor: Duane L. Guernsey, Meng-Hee Tan, Barbara Morash, K. Buth, J. Tan, Gale I Dempsey, Bassam A. Nassar

Publikováno v: Clinical Biochemistry. 26:127-128

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1d4a62a2e66a1d7a1156c6fb900c42c
https://doi.org/10.1016/0009-9120(93)90051-7

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