Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Leonora Theart"'
Publikováno v:
Human Genetics. 96:401-406
DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529741b965c176616f95bbb0a306ac57
https://doi.org/10.1007/bf00191796
https://doi.org/10.1007/bf00191796
Autor:
Rochelle Thiart, Magda Callis, Armand V. Peeters, Leonora Theart, E. Langenhoven, Maritha J. Kotze
Publikováno v:
Europe PubMed Central
We have developed a rapid, nonradioactive screening test enabling the simultaneous analysis of three low-density lipoprotein receptor (LDLR) gene mutations (D154N, D206E, and V408M), which together account for familial hypercholesterolemia (FH) in ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f775eb495b153a2274c0c8ed4f148550
https://doi.org/10.1101/gr.4.6.352
https://doi.org/10.1101/gr.4.6.352
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fc0b67296c10600a7adc622938714b
https://doi.org/10.1136/jmg.32.5.379
https://doi.org/10.1136/jmg.32.5.379
Publikováno v:
Molecular and Cellular Probes. 8:513-518
Familial defective apolipoprotein B-100 (FDB) is a dominantly-inherited genetic disorder causing primary hypercholesterolemia and premature coronary heart disease. To date, only two mutations causing FDB have been identified. A rapid non-radioactive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::828abad84eacda303ea0f45b1cb5f330
https://doi.org/10.1006/mcpr.1994.1072
https://doi.org/10.1006/mcpr.1994.1072
Publikováno v:
Human Mutation. 6:181-183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b8644c13b0eab66246413ca06443d92
https://doi.org/10.1002/humu.1380060212
https://doi.org/10.1002/humu.1380060212
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a6fe0636dc285dc3cace48711e6317
https://pubmed.ncbi.nlm.nih.gov/9727745
https://pubmed.ncbi.nlm.nih.gov/9727745
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349bd083101f980aa7e1eb47d3782fcc
https://pubmed.ncbi.nlm.nih.gov/9237502
https://pubmed.ncbi.nlm.nih.gov/9237502