Article
The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.
Journal of genetic counseling - 1 Feb 2018
Macklin Sarah, Laney Dawn, Lisi Emily, Atherton Andrea, Smith Elizabeth
Abstract excerpt
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the...
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