The human type I collagen mutation database
暂无分享,去创建一个
[1] D. Sillence,et al. Genetic heterogeneity in osteogenesis imperfecta. , 1979, Journal of medical genetics.
[2] R. Dalgleish,et al. Perinatal lethal osteogenesis imperfecta. , 1995, Journal of medical genetics.
[3] E. Vuorio,et al. The family of collagen genes. , 1990, Annual review of biochemistry.
[4] R. Timpl,et al. The collagen superfamily. , 1995, International archives of allergy and immunology.
[5] L. Parreira. [From the genotype to the phenotype]. , 1999, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.
[6] D. Prockop,et al. A sequence polymorphism in the 3′-nontranslated region of the proα1 chain of type I procollagen , 1990 .
[7] T. Pihlajaniemi,et al. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. , 1984, The Journal of biological chemistry.
[8] Sheldon,et al. A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. , 1990, The Journal of clinical investigation.
[9] B. Sokolov,et al. G to A polymorphism in exon 45 of the COL1A1 gene. , 1991, Nucleic acids research.
[10] Beat Steinmann,et al. Connective tissue and its heritable disorders —Molecular, genetic and medical aspects , 1993 .
[11] C. Mathew,et al. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. , 1993, Journal of medical genetics.
[12] A. Olsen,et al. Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1). , 1991, Matrix.
[13] J. Engel,et al. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. , 1991, Annual review of biophysics and biophysical chemistry.
[14] P. Byers,et al. Brittle bones--fragile molecules: disorders of collagen gene structure and expression. , 1990, Trends in genetics : TIG.
[15] D J Prockop,et al. Collagens: molecular biology, diseases, and potentials for therapy. , 1995, Annual review of biochemistry.
[16] G. Barsh,et al. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[17] J. Hirsch,et al. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta , 1983, Nature.
[18] D. Prockop,et al. PvuII polymorphism at the COL1A2 locus. , 1990, Nucleic acids research.
[19] H. Kuivaniemi,et al. Three new polymorphisms at the COL1A2 locus. , 1992, Matrix.
[20] R. Dalgleish,et al. A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. , 1991, The Journal of biological chemistry.
[21] C. Fombrun,et al. Matrix , 1979, Encyclopedic Dictionary of Archaeology.
[22] M. Chu,et al. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. , 1985, The Journal of biological chemistry.