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Results: 1-3 |
Results: 3
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
Authors: Schwarze, U Schievink, WI Petty, E Jaff, MR Babovic-Vuksanovic, D Cherry, KJ Pepin, M Byers, PH
Citation: U. Schwarze et al., Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV, AM J HU GEN, 69(5), 2001, pp. 989-1001
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene
Authors: Colige, A Sieron, AL Li, SW Schwarze, U Petty, E Wertelecki, W Wilcox, W Krakow, D Cohn, DH Reardon, W Byers, PH Lapiere, CM Prockop, DJ Nusgens, BV
Citation: A. Colige et al., Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene, AM J HU GEN, 65(2), 1999, pp. 308-317
The medical genetics evaluation
Authors: Petty, E
Citation: E. Petty, The medical genetics evaluation, GUIDE TO GENETIC COUNSELING, 1998, pp. 75-98
Risultati: 1-3 |