The gene encoding ATP-binding cassette transporter I is mutated in Tangier disease

Nature Genetics

Volumn 22, Issue 4, 1999, Pages 347-351

  Bodzioch, Marek ^a   Orsó, Evelyn ^a   Klucken, Jochen ^a   Langmann, Thomas ^a   Böttcher, Alfred ^a   Diederich, Wendy ^a   Drobnik, Wolfgang ^a   Barlage, Stefan ^a   Büchler, Christa ^a   Porsch Özcürümez, Mustafa ^a   Kaminski, Wolfgang E ^a   Hahmann, Harry W ^b   Oette, Kurt ^c   Rothe, Gregor ^a   Aslanidis, Charalampos ^a   Lackner, Karl J ^a   Schmitz, Gerd ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b Klinik Schwabenland   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CHOLESTEROL ESTER; GENE PRODUCT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL METABOLISM; CHROMOSOME 9Q; CLINICAL FEATURE; FEMALE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LIPID METABOLISM; LYSOSOME; MALE; MONONUCLEAR PHAGOCYTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TANGIER DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHILD, PRESCHOOL; CHOLESTEROL, HDL; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; TANGIER DISEASE;

EID: 0032813809     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/11914     Document Type: Article

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