Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.

Abstract excerpt

Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1000 mutant alleles have been disclosed thus far. Few population-based studies have reported mutational hotspots in some ge...

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