## Communicated by Mark H. Paalman Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations
β Scribed by Magda Callis; Stander Jansen; Rochelle Thiart; J.Nico P. de Villiers; Frederick J. Raal; Maritha J. Kotze
- Book ID
- 115638242
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 284 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0890-8508
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## Communicated by Mark H. Paalman Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern ar
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis. The aim of this study was to characterize the LDLR mutations in a group of 476 apparently n