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The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.
- Source :
- Clinical Genetics; Nov2024, Vol. 106 Issue 5, p661-663, 3p
- Publication Year :
- 2024
-
Abstract
- Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion. [ABSTRACT FROM AUTHOR]
- Subjects :
- ANGIOKERATOMA corporis diffusum
GENETIC variation
SUSPICION
FAMILIES
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 106
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 180044439
- Full Text :
- https://doi.org/10.1111/cge.14591