Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Odell Loubser"'
Autor:
Odell Loubser, J. N. P. De Villiers, Rochelle Thiart, A.E. Retief, Roberta N. Rooney, Louise Warnich, C. J. J. Oosthuizen, Maritha J. Kotze, M.M van Niekerk, Ilse M. Groenewald, Johannes Z. Groenewald
Publikováno v:
Molecular and Cellular Probes. 12:293-300
A subset of probands from 11 South African families with clinical and/or biochemical features of variegate porphyria (VP), but without the known protoporphyrinogen oxidase (PPOX) gene defects identified previously in the South African population, wer
Autor:
C. J. Lintott, Leonora Theart, E. Langenhoven, Odell Loubser, Maritha J. Kotze, Russell S. Scott, Armand V. Peeters
Publikováno v:
Journal of Medical Genetics. 32:379-382
DNA from 14 unrelated New Zealand familial hypercholesterolaemia (FH) heterozygotes, originating from the United Kingdom, was screened for mutations in exon 4 of the low density lipoprotein receptor (LDLR) gene. One patient was heterozygous for mutat
Autor:
Odell Loubser, J. Nico P. de Villiers, Rochelle Thiart, Frederick J. Raal, Charlotte L. Scholtz, Maritha J. Kotze
Publikováno v:
Human Genetics. 100:101-103
Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by u
Autor:
Armand V. Peeters, Rochelle Thiart, Maritha J. Kotze, María Rita Santos, J. N. P. De Villiers, Marco A. Vargas, Odell Loubser
Publikováno v:
Human Genetics. 98:476-478
Mutation analysis of the low density lipoprotein receptor (LDLR) gene revealed a novel 8-bp duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia. The frameshift caused by this mutation results in a premature t
Autor:
Juliette Gafni, Simon C. Warby, Claire-Anne Gutekunst, Lisa M. Ellerby, Yu-Zhou Yang, Donald W. Nicholson, Steven M. Hersch, Roshni R. Singaraja, Odell Loubser, Blair R. Leavitt, Cheryl L. Wellington, Dale E. Bredesen, Michael R. Hayden, Rona K. Graham, Sophie Roy, Daniel A. Rogers, Jeremy M. Van Raamsdonk
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience. 22(18)
Huntington's disease (HD) results from polyglutamine expansion in huntingtin (htt), a protein with several consensus caspase cleavage sites. Despite the identification of htt fragments in the brain, it has not been shown conclusively that htt is clea
Autor:
Maritha J. Kotze, Rochelle Thiart, Odell Loubser, Catherine Boileau, L du Plessis, Russell S. Scott, Jnp de Villiers, C. J. Lintott, Mathilde Varret
Publikováno v:
Molecular and cellular probes. 14(5)
Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are relatively common lipid disorders caused by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (apo B) genes, respectively. Molecular
Autor:
Lana du Plessis, Odell Loubser, Leonora Theart, Vanessa M. Hayes, Maritha J. Kotze, Armand V. Peeters, Peter S. Hansen, Greetje de Jong, J. Nico P. de Villiers, Carl J. Lombard, Frederick J. Raal
Publikováno v:
Clinical genetics. 54(1)
Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners. Two hundred and twenty-one South African children, from 8
Publikováno v:
Molecular and cellular probes. 11(6)
Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican pati
Autor:
Reinhardt Zaire, Frederick J. Raal, Odell Loubser, J. Nico P. de Villiers, M. P. Marx, Maritha J. Kotze, Rochelle Thiart
Publikováno v:
Europe PubMed Central
Autor:
Leonora Theart, E. Langenhoven, Rochelle Thiart, Krisela Steyn, J. Nico P. de Villiers, Frederick J. Raal, A. David Marais, Maritha J. Kotze, Odell Loubser
Publikováno v:
Clinical genetics. 51(6)
Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The nov