Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.
Regional Genetics Centre, Belfast City Hospital Trust, N. Ireland.
A J
AJ
Ward
M
M
O'Kane
I
I
Young
D P
DP
Nicholls
N C
NC
Nevin
C A
CA
Graham
D000328:Adult; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007494:Ireland; D008077:Lipoproteins, LDL / Q000235:genetics*; D009154:Mutation
D008077:Lipoproteins, LDL