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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I
BACKGROUND: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α‐l‐iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients wit...
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| Publicat a: | J Clin Lab Anal |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6805319/ https://ncbi.nlm.nih.gov/pubmed/31386236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22963 |
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