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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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| Publicado no: | J Clin Lab Anal |
|---|---|
| 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/PMC6805319/ https://ncbi.nlm.nih.gov/pubmed/31386236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22963 |
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