| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833530 | Molecular Genetics and Metabolism | 2012 | 8 Pages |
Abstract
⺠ABCA1 mutations were identified in 10 patients with low plasma HDL-C levels. ⺠Five patients had Tangier disease and five had Familial HDL deficiency. ⺠Seven novel ABCA1 mutations were identified: 5 in exons and 2 in introns. ⺠The exonic mutations produced deleterious missense or nonsense mutations. ⺠The intronic mutations generated abnormally spliced mRNA encoding truncated proteins.
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Authors
Tommaso Fasano, Paolo Zanoni, Claudio Rabacchi, Livia Pisciotta, Elda Favari, Maria Pia Adorni, Patrick B. Deegan, Adrian Park, Thinn Hlaing, Michael D. Feher, Ben Jones, Asli Subasioglu Uzak, Fatih Kardas, Andrea Dardis, Annalisa Sechi, Bruno Bembi,