Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.
Jensen
H K
HK
Center for Medical Molecular Biology, Aarhus University Hospital, Denmark.
Jensen
L G
LG
Hansen
P S
PS
Faergeman
O
O
Gregersen
N
N
D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D017931:DNA Primers; D003718:Denmark; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008214:Lymphocytes / Q000737:chemistry; D008297:Male; D008969:Molecular Sequence Data; D016296:Mutagenesis / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
D017931:DNA Primers; D011973:Receptors, LDL; D002784:Cholesterol