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Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia

✍ Scribed by Eleftheria Laios; Kyriaki Glynou

Book ID: 108095477
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 111 KB
Volume: 41
Category: Article
ISSN: 0009-9120
DOI: 10.1016/j.clinbiochem.2007.09.017

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## 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