Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with tangier disease

Journal of Human Genetics

Volumn 47, Issue 6, 2002, Pages 325-329

  Guo, Z ^a   Inazu, A ^a   Yu, W ^a   Suzumura, T ^a   Okamoto, M ^a   Nohara, A ^a   Higashikata, T ^a   Sano, R ^b   Wakasugi, K ^c   Hayakawa, T ^d   Yoshida, K ^d   Suehiro, T ^e   Schmitz, G ^f   Mabuchi, H ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b Sano Clinic   (Japan)

^c Wakasugi Clinic   (Japan)

^d Toyama Municipal Hospital   (Japan)

^e KOCHI MEDICAL SCHOOL   (Japan)

^f UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

ABCA1; Double deletions; Large deletion; Missense mutation; Tangier disease; Walker A

Indexed keywords

ABC TRANSPORTER; HIGH DENSITY LIPOPROTEIN; NUCLEOTIDE BINDING PROTEIN; ABC TRANSPORTER A1; DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DELETION MUTANT; EXON; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; JAPAN; LIPOPROTEIN DEFICIENCY; MALE; MISSENSE MUTATION; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TANGIER DISEASE; AGED; BLOOD; ETHNOLOGY; GENE DELETION; GENETICS; GENOTYPE; HOMOZYGOTE; MIDDLE AGED; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

ADULT; AGED; ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, SOUTHERN; CASE REPORT; DNA; GENE DELETION; GENOTYPE; HOMOZYGOTE; HUMAN; JAPAN; LIPOPROTEINS, HDL; MALE; MIDDLE AGE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; TANGIER DISEASE; HUMANS; MIDDLE AGED;

EID: 0035987005     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200044     Document Type: Article

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