Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease-Reference-Cited by-同舟云学术

Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease

Published:2003-09 Issue:3 Volume:7 Page:169-174
ISSN:1084-8592
Container-title:Molecular Diagnosis
language:en
Short-container-title:Molecular Diagnosis

Author:

Kotze Maritha J.,Kriegshäuser Gernot,Thiart Rochelle,Villiers Nico J. P.,Scholtz Charlotte L.,Kury Fritz,Moritz Anne,Oberkanins Christian

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF03260034.pdf

Reference30 articles.

1. Kotze MJ, Langenhoven E, Warnich L, et al. The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Ann Hum Genet 1991; 55: 115–21

2. Kotze MJ, Loubser O, Thiart R, et al. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians. Clin Genet 1997; 51: 394–8

3. Meiner V, Landsberger D, Berkman N, et al. A common Lithuanian mutation causing familial hypercholesterolaemia in Ashkenazi Jews. Am J Hum Genet 1991; 49: 443–9

4. Loubser O, Marais AD, Kotze MJ, et al. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry. Clin Genet 1999; 55: 340–5

5. Thiart R, Scholtz CL, Vergotine J, et al. Predominance of a 6-bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. J Med Genet 2000; 37: 514–9

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