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Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing

Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase. This enzyme is encoded by the NAGLU gene. A 9-year-old male...

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Détails bibliographiques
Publié dans:J Pediatr Genet
Auteurs principaux: Elmas, Muhsin, Gogus, Basak, Kılıçarslan, Furkan, Bukulmez, Aysegul, Solak, Mustafa
Format: Artigo
Langue:Inglês
Publié: Georg Thieme Verlag KG 2021
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853908/
https://ncbi.nlm.nih.gov/pubmed/33552644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1708555
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