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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Detalles Bibliográficos
Autores principales: Al Dhahouri, Nahid, Ali, Amanat, Hertecant, Jozef, Al-Jasmi, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850695/
https://www.ncbi.nlm.nih.gov/pubmed/35186827
http://dx.doi.org/10.3389/fped.2021.803732

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850695/
https://www.ncbi.nlm.nih.gov/pubmed/35186827
http://dx.doi.org/10.3389/fped.2021.803732

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