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The American Journal of Physiology|May 12, 1998
Isolation and characterization of the lower portion of the thin limb of Henle in primary cultureC Grupp, M Begher, D Cohen, et al.American Journal of Human Genetics|January 1, 1997
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndromeJ Heikkinen, T Toppinen, H Yeowell, et al.Human Genetics|November 1, 1994
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagenN J Rose, K Mackay, A De Paepe, et al.Helvetica Paediatrica Acta|February 1, 1978
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonistR Gitzelmann, B Steinmann, A Otten, et al.The Journal of Biological Chemistry|September 25, 1980
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VIIB Steinmann, L Tuderman, L Peltonen, et al.European Journal of Pediatrics|August 1, 1988
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasiaP M Royce, A Blumberg, R P Zurbrügg, et al.Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigationsE R Baumgartner, H Wick, J C Linnell, et al.Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|March 4, 2000
Natural radionuclide distribution in soils of Gudalore, IndiaS Selvasekarapandian, R Sivakumar, N M Manikandan, et al.Surgery|June 1, 1997
Efficacy of cultured epithelial autografts in pediatric burns and reconstructive surgeryR Gobet, M Raghunath, S Altermatt, et al.Pageof 23