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A 5' splice site mutation in fucosidosis.
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the co...
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| Main Authors: | , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1993
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016303/ https://ncbi.nlm.nih.gov/pubmed/8097260 |
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