Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

Arylsulfatase B is an enzyme present in the lysosomes that involves in the breakdown of large sugar molecules known as glycosaminoglycans (GAGs). Arylsulfatase B chemically modifies two GAGs, namely, dermatan sulfate and chondroitin sulfate, by removing the sulfate group. Mutations in the gene encod...

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Autores principales: Nahid Al Dhahouri (Autor), Amanat Ali (Autor), Jozef Hertecant (Autor), Fatma Al-Jasmi (Autor)
Formato: Libro
Publicado: Frontiers Media S.A., 2022-02-01T00:00:00Z.
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