A novel missense mutation of ABCA1 in transmembrane α-helix in a Japanese patient with Tangier disease

Atherosclerosis

Volumn 206, Issue 1, 2009, Pages 216-222

  Maekawa, Mizuho ^a   Kikuchi, Jiro ^a   Kotani, Kazuhiko ^a,b   Nagao, Kohjiro ^c   Odgerel, Tsogbadrakh ^a   Ueda, Kazumitsu ^c,d   Kawano, Mikihiko ^a   Furukawa, Yusuke ^a   Sakurabayashi, Ikunosuke ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY   (Japan)

Author keywords

ABCA1; Missense mutation; Tangier disease; Transmembrane domain

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; ARGININE; CHOLESTEROL; CYSTEINE; CYTOSINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; MEMBRANE PROTEIN; PHOSPHOLIPID; THYMINE;

ADULT; ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL TRANSPORT; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; GENE LOCATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; JAPANESE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; RNA TRANSLATION; SWELLING; TANGIER DISEASE; TONSIL;

ADULT; APOLIPOPROTEIN A-I; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; TANGIER DISEASE;

EID: 68949202985     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.02.018     Document Type: Article

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