α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
| Autor: | Scott, Hamish S., Litjens, Tom, Nelson, Paul V., Brooks, Doug A., Hopwood, John J., Morris, C. Phillip |
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| Zdroj: | Human Mutation; 1992, Vol. 1 Issue 4, p333-339, 7p |
| Databáze: | Complementary Index |
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