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Mutations in ABCC6 cause pseudoxanthoma elasticum

โœ Scribed by Bergen, Arthur A.B.; Plomp, Astrid S.; Schuurman, Ellen J.; Terry, Sharon; Breuning, Martijn; Dauwerse, Hans; Swart, Jaap; Kool, Marcel; van Soest, Simone; Baas, Frank; ten Brink, Jacoline B.; de Jong, Paulus T.V.M.

Book ID
109828277
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
472 KB
Volume
25
Category
Article
ISSN
1061-4036

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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