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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
BACKGROUND: The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler–Scheie syndrome and attenuated Scheie syndrome)....
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| 出版年: | Diagn Pathol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5975427/ https://ncbi.nlm.nih.gov/pubmed/29843745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13000-018-0710-3 |
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