Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1
| Autor: | Motley, Alison M., Brites, Pedro, Gerez, Lisya, Hogenhout, Eveline, Haasjes, Janet, Benne, Rob, Tabak, Henk F., Wanders, Ronald J.A., Waterham, Hans R. |
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| Zdroj: | In The American Journal of Human Genetics 2002 70(3):612-624 |
| Databáze: | ScienceDirect |
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