Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene.
| Autor: | Eng, Christine M., Niehaus, Dana J., Enriquez, Annette L., Burgert, Tania S., Ludman, Mark D., Desnick, RobertJ. |
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| Zdroj: | Human Molecular Genetics; Oct1994, Vol. 3 Issue 10, p1795-1799, 5p |
| Databáze: | Complementary Index |
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