A mutation (−49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia

A mutation (−49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia

We have identified a mutation (−49C>T) in the low-density lipoprotein receptor (LDLR) gene in a Spanish familial hypercholesterolemia (FH) patient. The mutation maps within repeat 3 of the LDLR gene promoter. This region binds Sp1 and collaborates with repeat 2 in the regulation of LDLR gene by s...

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Bibliographic Details
Main Authors: Pilar Mozas, Román Galetto, Marta Albajar, Emilio Ros, Miguel Pocoví, José C. Rodríguez-Rey
Format: Article
Language:English
Published: Elsevier 2002-01-01
Series:Journal of Lipid Research
Subjects:
gene expression
familial hypercholesterolemia
deoxyribonucleic acid
fetal bovine serum
low-density lipoprotein receptor gene
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520301814

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http://www.sciencedirect.com/science/article/pii/S0022227520301814

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