Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

Science

Volumn 292, Issue 5520, 2001, Pages 1394-1398

  Garcia, Christine Kim ^a   Wilund, Kenneth ^a   Arca, Marcello ^a   Zuliani, Giovanni ^a   Fellin, Renato ^a   Maioli, Mario ^a   Calandra, Sebastiano ^a   Bertolini, Stefano ^a   Cossu, Fausto ^a   Grishin, Nick ^a   Barnes, Robert ^a   Cohen, Jonathan C ^a   Hobbs, Helen H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOLOGY; DISEASE CONTROL; GENES; TISSUE;

MUTATIONS;

PROTEINS;

ADAPTOR PROTEIN; CELL SURFACE RECEPTOR; GENE PRODUCT; LOW DENSITY LIPOPROTEIN RECEPTOR; PHOSPHOTYROSINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 1P; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FIBROBLAST; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN MOTIF;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BINDING SITES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CLONING, MOLECULAR; EXONS; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; INTRONS; ITALY; LEBANON; LIVER; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; ORGAN SPECIFICITY; PEDIGREE; PHOSPHOTYROSINE; PROTEIN BINDING; RECEPTORS, LDL; RNA, MESSENGER; SEQUENCE ALIGNMENT; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 0035906961     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1060458     Document Type: Article

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