PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
| Autor: | Bjursell, Cecilia, Erlandson, Anna, Nordling, Margareta, Nilsson, Staffan, Wahlström, Jan, Stibler, Helena, Kristiansson, Bengt, Martinsson, Tommy |
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| Zdroj: | Human Mutation; Nov2000, Vol. 16 Issue 5, p395-400, 6p |
| Databáze: | Complementary Index |
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