Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

<i>Background</i>: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by &#945;-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic vari...

Full description

Bibliographic Details
Main Authors: Agnė Čerkauskaitė, Rimantė Čerkauskienė, Marius Miglinas, Arvydas Laurinavičius, Can Ding, Arndt Rolfs, Lina Vencevičienė, Jūratė Barysienė, Edita Kazėnaitė, Eglė Sadauskienė
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Medicina
Subjects:
Fabry disease
α-galactosidase A
<i>GLA</i> gene
novel mutation
classical manifestation
Online Access:https://www.mdpi.com/1010-660X/55/5/122

Internet

https://www.mdpi.com/1010-660X/55/5/122

Similar Items