Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
Abstract
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 effects in female gene carriers, which might...
Paper Details
Title
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
Published Date
Jul 19, 2016
Journal
Volume
17
Issue
1
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