Article
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
BMC medical genetics - 19 Jul 2016
Oder Daniel, Vergho Dorothee, Ertl Georg, Wanner Christoph, Nordbeck Peter
Abstract excerpt
BACKGROUND: X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype due to random allele shutdown. However, clinical evidence is scarce and potential additional...
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