Article
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Human mutation - 1 Nov 2004
Gheduzzi Dealba, Guidetti Rita, Anzivino Claudia, Tarugi Patrizia, Di Leo Enza, Quaglino Daniela, Ronchetti Ivonne Pasquali
Abstract excerpt
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 sequenced in 38 unrelated PXE Italian families. The mutation detection rate was 82.9%. Mutant alleles occurred in...
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