Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

Tricot-Guerber F, Saint-Jore B, Valenti K, Foulon T, Bost M, Hadjian A J

Laboratoire de Biochemie A, CHUG, Grenoble, France.

Hum Mutat. 1995;6(1):87-8. doi: 10.1002/humu.1380060117.

Abstract

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