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Q33857941-A4DB1ED8-B720-42E4-B8F7-7422AEF254E6
Q33857941-A4DB1ED8-B720-42E4-B8F7-7422AEF254E6
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Statement
http://www.wikidata.org/entity/statement/Q33857941-A4DB1ED8-B720-42E4-B8F7-7422AEF254E6
Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.
P2860
Q33857941-A4DB1ED8-B720-42E4-B8F7-7422AEF254E6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33857941-A4DB1ED8-B720-42E4-B8F7-7422AEF254E6
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wasDerivedFrom
4ef54d858dc7f77f77f5503011f59b66465c587a
P2860
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.