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ABCC6 and pseudoxanthoma elasticum

✍ Scribed by Arthur A. B. Bergen; Astrid S. Plomp; Xiaofeng Hu; Paulus T. V. M. de Jong; Theo G. M. F. Gorgels

Book ID
106109590
Publisher
Springer
Year
2006
Tongue
English
Weight
261 KB
Volume
453
Category
Article
ISSN
0031-6768

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Pseudoxanthoma elasticum (PXE) is a genetic disorder, characterized by cutaneous, ocular and cardiovascular clinical symptoms, caused by mutations in a gene (ABCC6) that encodes for MRP6 (Multidrug Resistance associated Protein 6), an ATP-binding cassette membrane transporter. The ABCC6 gene was seq