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A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Ann N Y Acad Sci. 1996 Jun 8;785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x. Ann N Y Acad Sci. 1996. PMID: 8702127 Review. No abstract available.
Microangiopathy in Ehlers-Danlos syndrome type IV.
Superti-Furga A, Saesseli B, Steinmann B, Bollinger A. Superti-Furga A, et al. Int J Microcirc Clin Exp. 1992 Aug;11(3):241-7. Int J Microcirc Clin Exp. 1992. PMID: 1506129
Mechanism of action of FK 506 and cyclosporin.
Steinmann B, Superti-Furga A, Bruckner P. Steinmann B, et al. Lancet. 1991 Feb 16;337(8738):439. doi: 10.1016/0140-6736(91)91225-j. Lancet. 1991. PMID: 1704088 No abstract available.
Type III collagen deficiency.
Superti-Furga A, Steinmann B, Byers PH. Superti-Furga A, et al. Lancet. 1989 Apr 22;1(8643):903-4. doi: 10.1016/s0140-6736(89)92899-7. Lancet. 1989. PMID: 2564982 No abstract available.
394 results