Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia

IUBMB Life

Volumn 62, Issue 2, 2010, Pages 125-131

  Soutar, Anne K ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Genetic variation; Human molecular disease; LDL receptor; Protein function

Indexed keywords

CLATHRIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN CLATHRIN ADAPTOR; PROTEIN PCSK 9; SERINE PROTEINASE; UNCLASSIFIED DRUG; CHOLESTEROL; LDLRAP1 PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AUTOSOMAL DOMINANT INHERITANCE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; HYPERCHOLESTEROLEMIA; LOSS OF FUNCTION MUTATION; NONHUMAN; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN SECRETION; REVIEW; DOMINANT GENE; GENETICS; METABOLISM; PHYSIOLOGY; RECESSIVE GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHOLESTEROL; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; HYPERCHOLESTEROLEMIA; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 77949717233     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.299     Document Type: Review

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