Phenotypic variation and its correlation with mutations in the low density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.
Sun
X M
XM
Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, London, U.K.
Neuwirth
C
C
Patel
D D
DD
Knight
B L
BL
Soutar
A K
AK
D000328:Adult; D003327:Coronary Disease / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006580:Genetic Carrier Screening; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D012189:Retrospective Studies
D011973:Receptors, LDL