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.
The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified / Zampieri, Stefania; Cattarossi, Silvia; Ferri, Lorenzo; Graziano, Claudio; Santostefano, Marisa; Morrone, Amelia; Dardis, Andrea. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - Jul 18:(2024), pp. 1-2. [10.1111/cge.14591]
The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified
Graziano, Claudio;Morrone, Amelia;
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.
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