A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation
Familial hypercholesterolemia (FH) is an autosomal dominant disorder with a frequency of 1 in 500 in most western populations. It is characterized by hypercholesterolemia, which predisposes to the formation of tendon xanthomas and artherosclerotic plaques, increasing the risk of coronary artery dise...
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Veröffentlicht in: | Human mutation 1997, Vol.9 (3), p.274-276 |
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