In this study we report the clinical and molecular characterization of an Italian PXE family with three affected members.
Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with pseudoxanthoma elasticum
ZOPPI, Nicoletta;VENTURINI, Marina;BARLATI, Sergio;CALZAVARA PINTON, Piergiacomo;COLOMBI, Marina
2008-01-01
Abstract
In this study we report the clinical and molecular characterization of an Italian PXE family with three affected members.File in questo prodotto:
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