| Literature DB >> 12432991 |
Toshio Ohtani1, Fukumi Furukawa.
Abstract
Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations of PXE.Entities:
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Year: 2002 PMID： 12432991 DOI： 10.1111/j.1346-8138.2002.tb00190.x
Source DB: PubMed Journal: J Dermatol ISSN： 0385-2407 Impact factor: 4.005