Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
| Autor: | Brites P; University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands., Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HS, Tabak HF, Distel B, Wanders RJ |
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| Jazyk: | angličtina |
| Zdroj: | Journal of inherited metabolic disease [J Inherit Metab Dis] 1998 Jun; Vol. 21 (3), pp. 306-8. |
| DOI: | 10.1023/a:1005301112923 |
| Databáze: | MEDLINE |
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