View source for JASReference:Soutar AK:Knight BL:Patel DD:,Proc Natl Acad Sci U S A,1989,86,4166

{{JAS/Error/NonJapanese}}

{{JASReference|mutation=
<!-- LDLR/Mut/2054/C-T&&P685L&&exon14&&Mut/2054/C-T&&P664L&&exon14 -->
|title=Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors
|doi=10.1073/pnas.86.11.4166
|pmid=2726768
}}