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Proceedings of the National Academy of Sciences of the United States of America|July 1, 1984
Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfectaL A Dickson, T Pihlajaniemi, S Deak, et al.
The Journal of Biological Chemistry|May 6, 1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytesP Freisinger, L Ala-Kokko, D LeGuellec, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 1, 1986
Large introns in the 3' end of the gene for the pro alpha 1 (IV) chain of human basement membrane collagenR Soininen, L Tikka, L Chow, et al.
Human Mutation|January 1, 1997
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrentJ Körkkö, H Kuivaniemi, P Paassilta, et al.
The Biochemical Journal|January 15, 1989
Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfectaT Pihlajaniemi, J McKeon, S Gay, et al.
Matrix (Stuttgart, Germany)|December 1, 1991
Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1)A Westerhausen, C D Constantinou, M Pack, et al.
The Journal of Biological Chemistry|November 21, 1998
Recombinant procollagen II: Deletion of D period segments identifies sequences that are required for helix stabilization and generates a temperature-sensitive N-proteinase cleavage siteW V Arnold, A Fertala, A L Sieron, et al.
The Biochemical Journal|February 15, 1994
Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080)A Fertala, A L Sieron, A Ganguly, et al.
The Journal of Biological Chemistry|November 10, 1984
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutationT Pihlajaniemi, L A Dickson, F M Pope, et al.
The Biochemical Journal|June 15, 1995
Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1)L Ala-Kokko, A P Kvist, M Metsäranta, et al.
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