A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.

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Takahashi M, Ikeda U, Takahashi S, Hattori H, Iwasaki T, Ishihara M, Egashira T, Honma S, Asano Y, Shimada K

A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.

Clin Genet. 2001 Apr;59(4):290-2.

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11298688 [ View in PubMed
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Polypeptides
NameUniProt ID
Low-density lipoprotein receptorP01130Details