A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.
Familial hypercholesterolemia is an autosomal dominant inherited condition characterized by a mutation in the low-density lipoprotein receptor (LDLR) gene. A database has been set up on the World Wide Web for mutations in the LDLR gene.
Wilson
D J
DJ
Department of Medicine, University College London Medical School, Rayne Institute, United Kingdom.
Gahan
M
M
Haddad
L
L
Heath
K
K
Whittall
R A
RA
Williams
R R
RR
Humphries
S E
SE
Day
I N
IN
D000595:Amino Acid Sequence; D001483:Base Sequence; D019992:Databases as Topic; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008490:Medical Informatics; D008969:Molecular Sequence Data; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D014481:United States
D011973:Receptors, LDL