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
F
Laboratoire de Biochemie A, CHUG, Grenoble, France.
Saint-Jore
B
B
Valenti
K
K
Foulon
T
T
Bost
M
M
Hadjian
A J
AJ
D005091:Exons; D005602:France; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL