Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Nature Genetics

Volumn 22, Issue 4, 1999, Pages 352-355

  Rust, Stephan ^a   Rosier, Marie ^b   Funke, Harald ^a   Real, José ^c   Amoura, Zahir ^d   Piette, Jean Charles ^d   Deleuze, Jean Francois ^b   Brewer, H Bryan ^e   Duverger, Nicolas ^b   Denèfle, Patrice ^b   Assmann, Gerd ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b Rhône Poulenc Rorer ^*  (France)

^c HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; COMPLEMENTARY DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PROTEIN;

ARTICLE; CHOLESTEROL TRANSPORT; CHROMOSOME 9Q; CLINICAL FEATURE; DNA SEQUENCE; FOAM CELL; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MACROPHAGE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TANGIER DISEASE;

AMINO ACID SEQUENCE; APOLIPOPROTEINS E; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 9; EXONS; FEMALE; GENE LIBRARY; GENETIC MARKERS; GLYCOPROTEINS; HUMANS; LIPOPROTEINS, HDL; MALE; MODELS, BIOLOGICAL; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; TANGIER DISEASE;

EID: 0032813660     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/11921     Document Type: Article

References (22)

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