Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
| Autor: | Furihata, Kenichi, Drousiotou, Anthi, Hara, Yoji, Christopoulos, George, Stylianidou, Goula, Anastasiadou, Violetta, Ueno, Ichiro, Ioannou, Panos |
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| Zdroj: | Human Mutation; 1999, Vol. 13 Issue 1, p38-43, 6p |
| Databáze: | Complementary Index |
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