A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
| Autor: | Superti-Furga A; Department of Pediatrics, University of Zurich, Switzerland., Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R |
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| Jazyk: | angličtina |
| Zdroj: | Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 1996 Jun 08; Vol. 785, pp. 195-201. |
| DOI: | 10.1111/j.1749-6632.1996.tb56259.x |
| Databáze: | MEDLINE |
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