A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis

BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. T...

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Detalles Bibliográficos
Autores principales: KHORRAMI, Mehdi, MAHDAVI, Manijeh, FAKHR, Fatemeh, KHEIROLLAHI, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789092/
https://www.ncbi.nlm.nih.gov/pubmed/31645877

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789092/
https://www.ncbi.nlm.nih.gov/pubmed/31645877

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