| 1 | HDLD, ABCA1 |
| Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. | |
| Albrecht C, Baynes K, Sardini A, Schepelmann S, Eden ER, Davies SW, Higgins CF, Feher MD, Owen JS, Soutar AK. | |
| Biochim Biophys Acta 1689(1):47-57. 2004 | |
| 2 | ABCA1, HDLD |
| Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. | |
| Nishida Y, Hirano K, Tsukamoto K, Nagano M, Ikegami C, Roomp K, Ishihara M, Sakane N, Zhang Z, Tsujii Ki K, Matsuyama A, Ohama T, Matsuura F, Ishigami M, Sakai N, Hiraoka H, Hattori H, Wellington C, Yoshida Y, Misugi S, Hayden MR, Egashira T, Yamashita S, Matsuzawa Y. | |
| Biochem Biophys Res Commun 290(2):713-21. 2002 | |
| 3 | ABCA1, HDLDT1, HDLD |
| Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. | |
| Brooks-Wilson A, et al. | |
| Nat Genet 22(4):336-45. 1999 | |