Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic tangier disease with compound heterozygous mutations in ABCA1 gene

Atherosclerosis

Volumn 240, Issue 2, 2015, Pages 324-329

  Tada, Hayato ^a   Kawashiri, Masa aki ^a   Nohara, Atsushi ^a   Saito, Reina ^a   Tanaka, Yoshihiro ^a   Nomura, Akihiro ^a   Konno, Tetsuo ^a   Sakata, Kenji ^a   Fujino, Noboru ^a   Takamura, Toshinari ^a   Inazu, Akihiro ^a   Mabuchi, Hiroshi ^a   Yamagishi, Masakazu ^a   Hayashi, Kenshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

ABCA1; Exome; Genetics; HDL; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CHOLESTEROL; CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; TRIACYLGLYCEROL; ABCA1 PROTEIN, HUMAN; BIOLOGICAL MARKER;

ABCA1 GENE; ADULT; ARTICLE; ASYMPTOMATIC DISEASE; AUTOSOMAL RECESSIVE INHERITANCE; BIOINFORMATICS; CASE REPORT; COMBINED ANNOTATION DEPENDENT DEPLETION; COMPUTER MODEL; CONTROLLED STUDY; EXOME; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SPLICE SITE MUTATION; SPLICING DEFECT; TANGIER DISEASE; WHOLE EXOME SEQUENCING; AGED; BIOLOGY; BLOOD; DNA MUTATIONAL ANALYSIS; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEREDITY; MUTATION; PEDIGREE; PREDICTIVE VALUE; PROCEDURES; RISK FACTOR; YOUNG ADULT;

ADULT; AGED; ASYMPTOMATIC DISEASES; ATP BINDING CASSETTE TRANSPORTER 1; BIOMARKERS; CHOLESTEROL, HDL; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEREDITY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RISK FACTORS; TANGIER DISEASE; YOUNG ADULT;

EID: 84926453830     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2015.04.003     Document Type: Article

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