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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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| Gepubliceerd in: | BMC Ophthalmol |
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| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8120710/ https://ncbi.nlm.nih.gov/pubmed/33985463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01979-3 |
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