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Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha‐L‐iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes. So far, more than 100 IDUA causative mutations have been identified lea...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6978265/ https://ncbi.nlm.nih.gov/pubmed/31758674 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1058 |
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