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
Article
Guo, Z., Inazu, A., Yu, W., Suzumura, T., Okamoto, M., Nohara, A., Higashikata, T., Sano, R., Wakasugi, K., Hayakawa, T., Yoshida, K., Suehiro, T., Schmitz, G. and Mabuchi, H. (2002) 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 47 (6), pp. 325-329.Alternative links to fulltext
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Details
| Item type | Article | ||||
| Journal or Publication Title | Journal of Human Genetics | ||||
| Publisher | SPRINGER-VERLAG TOKYO | ||||
| Place of Publication | TOKYO | ||||
| Volume | 47 | ||||
| Number of Issue or Book Chapter | 6 | ||||
| Page Range | pp. 325-329 | ||||
| Date | 2002 | ||||
| Date of publication | 19 Dec 2024 15:47 | ||||
| Institutions | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin | ||||
| Identification Number |
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| Keywords | DENSITY-LIPOPROTEIN DEFICIENCY; CHOLESTEROL EFFLUX; CLUSTER; FAMILY; REARRANGEMENT; INVERSION; SEQUENCE; COMMON; Tangier disease; ABCA1; large deletion; double deletions; missense mutation; Walker A | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 73263 |
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