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Article

Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.

Molecular genetics and metabolism - 1 Nov 2007

Quagliarini Fabiana, Vallvé Joan-Carles, Campagna Filomena, Alvaro Adriana, Fuentes-Jimenez Francisco José, Sirinian Maria Isabella, Meloni Francesca, Masana Luis, Arca Marcello

Abstract excerpt

Autosomal recessive hypercholesterolemia (ARH) is a rare genetic defect that causes marked elevation of plasma low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. It is due to mutations in the ARH gene that plays a critical role in the internalization of LDL receptor (LDLR) in liver cells. We describe a Spanish family where a 24-year-old proband and his 13-year-old sister showed the typical...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17686643
DOI: 10.1016/j.ymgme.2007.06.012

Genes

LDLR

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