Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

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Miltiadous G, Elisaf M, Xenophontos S, Manoli P, Cariolou MA

Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

Hum Mutat. 2000 Sep;16(3):277.

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10980548 [ View in PubMed
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Polypeptides
NameUniProt ID
Low-density lipoprotein receptorP01130Details