Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
Miltiadous
G
G
Molecular Genetics Department B & DNA Identification Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, Greece.
Elisaf
M
M
Xenophontos
S
S
Manoli
P
P
Cariolou
M A
MA
D019943:Amino Acid Substitution / Q000235:genetics*; D020090:Chromosome Segregation / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007532:Isoleucine / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
D011973:Receptors, LDL; D007532:Isoleucine; D013912:Threonine