12509412 |
Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis
Murata, M,
Amachi, T,
Matsuo, M,
Ohnishi, T,
Tanaka, AR,
Kano, F,
Abe-Dohmae, S,
Kioka, N,
Yokoyama, S,
Morinaga, G,
Okuhira, K,
Aoki, R,
Ikeda, Y,
Ueda, K
|
J. Biol. Chem. |
2003 |
10431236 |
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Mott, S,
van Dam, M,
Zhang, LH,
Martindale, D,
Roomp, K,
Molhuizen, HO,
Ashbourne-Excoffon, KJ,
Kastelein, JJ,
Clee, SM,
Hayden, MR,
Sensen, CW,
Frohlich, J,
Koop, B,
Genest, J,
Pimstone, S,
Brewer, C,
Yu, L,
Morgan, K,
Marcil, M,
Collins, JA,
Denis, M,
Loubser, O,
Brooks-Wilson, A,
Scherer, S,
Ouelette, BF,
Fichter, K
|
Nat. Genet. |
1999 |
11476961 |
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome
Bodzioch, M,
Krüll, M,
Schmitz, G,
Kielar, D,
Lapicka-Bodzioch, K,
Hubacek, J,
Böttcher, A,
Kiec, B,
Probst, M,
Suttorp, N,
Aslanidis, C,
Andrikovics, H
|
Biochim. Biophys. Acta |
2001 |
12111381 |
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
Schmitz, G,
Suzumura, T,
Yu, W,
Hayakawa, T,
Sano, R,
Higashikata, T,
Mabuchi, H,
Nohara, A,
Wakasugi, K,
Inazu, A,
Yoshida, K,
Okamoto, M,
Suehiro, T,
Guo, Z
|
J. Hum. Genet. |
2002 |