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...
Guardado en:
Autores principales: | , , , |
---|---|
Formato: | Libro |
Publicado: |
Frontiers Media S.A.,
2022-02-01T00:00:00Z.
|
Materias: | |
Acceso en línea: | Connect to this object online. |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Internet
Connect to this object online.3rd Floor Main Library
Número de Clasificación: |
A1234.567 |
---|---|
Copia 1 | Disponible |