Article
Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.
Human genetics - 1 Jul 1991
Loux N, Benlian P, Pastier D, Boileau C, Cambou J P, Monnier L, Percheron C, Junien C
Abstract excerpt
Many mutations in the low density lipoprotein receptor gene (LDLR) have been characterized at the molecular level in individuals with familial hypercholesterolemia. Most of the mutations that have been reported are large deletions or insertions in the gene, it being much more difficult to identify point mutations. In this study, 139 unrelated French familial hypercholesterolemia subjects were screened for the...
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