MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS
โ Scribed by Chmara, M.; Kubalska, J.; Bednarska-Makaruk, M.; Wegrzyn, A.; Pronicka, E.; Wehr, A.; Rynkiewicz, A.; Limon, J.
- Book ID
- 118636288
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 116 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1567-5688
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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
## 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