Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds

Journal of Lipid Research

Volumn 41, Issue 3, 2000, Pages 433-441

  Brousseau, Margaret E ^a   Schaefer, Ernst J ^a   Dupuis, Josee ^b   Eustace, Brenda ^b   Van Eerdeweg, Paul ^b,c   Goldkamp, Allison L ^a   Thurston, Lisa M ^b   Fitzgerald, Michael G ^b   Yasek McKenna, Diane ^d   O'Neill, Gilmore ^d   Eberhart, Gretchen P ^d   Weiffenbach, Barbara ^b   Ordovas, Jose M ^a   Freeman, Mason W ^d   Brown Jr , Robert H ^d   Gu, Jessie Z ^b  

^a TUFTS MEDICAL CENTER   (United States)

^b GENOME THERAPEUTICS CORPORATION   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Apolipoprotein; ATP binding cassette; Cholesterol; High density lipoprotein; Tangier disease

Indexed keywords

ADENOSINE TRIPHOSPHATE; APOLIPOPROTEIN; HIGH DENSITY LIPOPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE DELETION; GENE MUTATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; ISCHEMIC HEART DISEASE; MISSENSE MUTATION; MOLECULAR CLONING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETICULOENDOTHELIAL SYSTEM; TANGIER DISEASE;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 9; DNA PRIMERS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; TANGIER DISEASE;

EID: 19244377100     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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