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NewABCC6gene mutations in German pseudoxanthoma elasticum patients

✍ Scribed by Doris Hendig; Veronika Schulz; Jutta Eichgrün; Christiane Szliska; Christian Götting; Knut Kleesiek

Book ID
105796231
Publisher
Springer
Year
2004
Tongue
English
Weight
252 KB
Volume
83
Category
Article
ISSN
0946-2716

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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