title: Phenotypic variation and its correlation with mutations in the low density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.
authors.affiliation: Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, London, U.K.
authors.forename: X M
authors.initials: XM
authors.lastname: Sun
authors.forename: C
authors.initials: C
authors.lastname: Neuwirth
authors.forename: D D
authors.initials: DD
authors.lastname: Patel
authors.forename: B L
authors.initials: BL
authors.lastname: Knight
authors.forename: A K
authors.initials: AK
authors.lastname: Soutar
mesh_terms: 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
chemical_list: D011973:Receptors, LDL