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Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and...

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Detalles Bibliográficos
Autores principales:	He, Ming-Fang, Yang, Ji, Dong, Meng-Jie, Wang, Yin-Ting, Liu, Hai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120710/ https://www.ncbi.nlm.nih.gov/pubmed/33985463 http://dx.doi.org/10.1186/s12886-021-01979-3

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