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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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| 出版年: | J Clin Lab Anal |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | 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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