A case of tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1

American Journal of Medical Genetics

Volumn 130 A, Issue 4, 2004, Pages 398-401

  Guan, Jing Zhi ^a   Tamasawa, Naoki ^a   Brunham, Liam R ^e   Matsui, Jun ^a   Murakami, Hiroshi ^a   Suda, Toshihiro ^a   Ochiai, Shigeru ^b   Tsutsui, Masahiro ^c   Kudou, Kenji ^d   Satoh, Kei ^a   Hayden, Michael R ^e  

^a HIROSAKI UNIVERSITY   (Japan)

^b Tamagawa Clinic   (Japan)

^c HAKODATE CENTRAL GENERAL HOSPITAL   (Japan)

^d Hokushu Chuo Hospital   (Japan)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

ATP binding cassette A1; Cholesterol efflux; HDL C; Tangier disease

Indexed keywords

ABC TRANSPORTER; APOLIPOPROTEIN A1; GENE PRODUCT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; MUTANT PROTEIN;

ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CATARACT; CELL CULTURE; CELLULAR DISTRIBUTION; CHOLESTEROL BLOOD LEVEL; CHROMOSOME NOR; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TANGIER DISEASE;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, WESTERN; CATARACT; CHOLESTEROL, HDL; DNA MUTATIONAL ANALYSIS; FEMALE; HEPATOMEGALY; HUMANS; SPLENOMEGALY; TANGIER DISEASE;

EID: 7444222772     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30284     Document Type: Article

References (13)

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