Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta. Journal of Biological Chemistry 258(12): 7721-7728, 1983
Synthesis and processing of a type I procollagen containing shortened pro-a1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. The Journal of Biological Chemistry 258: 15-21, 1983
Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. Journal of Biological Chemistry 258(9): 5915-5921, 1983
Triplet duplication in alpha1 collagen chain of proband with lethal osteogenesis imperfecta shifts register of alpha chains in helix and alters incorporation of mutant trimers into fibrils and ECM. European Journal of Human Genetics 9(Suppl. 1): P1221, 2001
Triplet duplication in alpha1 collagen chain of proband with lethal osteogenesis imperfecta shifts register of alpha chains in helix and alters incorporation of mutant trimers into fibris and ECM. American Journal of Human Genetics 69(4 Suppl.): 635, 2001
A substitution of cysteine for glycine 904 of the alpha 1 i chain in a proband with lethal osteogenesis imperfecta and in his asymptomatic mother. Journal of Cellular Biochemistry Suppl. (13 Part E): 279, 1989
Osteogenesis imperfecta type iv analysis for mutations in alpha 2 i chains of type i collagen by alpha 2 i specific complementary dna synthesis and polymerase chain reaction. Fleischmajer, R , B R Olsen And K Kuehn (Ed ) Annals Of The New York Academy Of Sciences, Vol 580 Structure, Molecular Biology, And Pathology Of Collagen; Second New York Academy Of Sciences Conference on Collagen, Bethesda, Maryland, Usa, April 3-5, 1989 Xv+592p New York Academy Of Sciences: New York, New York, Usa Illus 546-548, 1990
Decreased collagen synthesis by skin fibroblasts from 31 patients suffering from osteogenesis imperfecta. Pediatric Research 24(2): 280, 1988
The molecular defect in a nonlethal variant of osteogenesis imperfecta: synthesis of pro-a2(I) chains which are not incorporated into trimers of type I procollagen. The Journal of Biological Chemistry 258: 7, 1983
The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen. Journal of Biological Chemistry 258(24): 15192-15197, 1983
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-a1(I) chains. The Journal of Biological Chemistry 261: 56-64, 1986
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. Journal of Biological Chemistry 261(19): 9056-9064, 1986
Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. Human Genetics 91(3): 210-216, 1993
Substitution of cysteine for glycine-1-691 in the pro1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C -terminal to the substitution. Biochemical Journal 279(3): 747-752, 1991
Substitution of cysteine for glycine alpha 1 691 in the proalpha 1i chain of type i procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site carboxyl terminal to the substitution. Biochemical Journal 279(3): 747-752, 1991