Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation
Abstract
Background Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described “Classic” and “late onset” which cannot be predicted exclusively by genotype. The latter has been considered an attenuated form of the disease often affecting a single organ system commonly the heart. Recent studies have...
Paper Details
Title
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation
Published Date
Apr 5, 2018
Journal
Volume
13
Issue
4
Pages
e0193550 - e0193550
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