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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Gong Y, et al. Am J Hum Genet. 1996 Jul;59(1):146-51. Am J Hum Genet. 1996. PMID: 8659519 Free PMC article.
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.
A HaeIII RFLP in COL1A1.
Mackay K, Hawkins JR, Superti-Furga A, Steinmann B, Dalgleish R. Mackay K, et al. Nucleic Acids Res. 1990 Oct 11;18(19):5926. doi: 10.1093/nar/18.19.5926. Nucleic Acids Res. 1990. PMID: 1977150 Free PMC article.
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.
393 results