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1مورد إلكتروني
المؤلفون: Syx, Delfien
المصدر: PLoS genetics; vol 17, iss 2, e1009339; 1553-7390
مصطلحات الفهرس: Cells, Cultured, Humans, Osteogenesis Imperfecta, Collagen Type I, Recombinant Proteins, Fatal Outcome, Protein Processing, Post-Translational, Amino Acid Sequence, Protein Binding, Sequence Homology, Amino Acid, Mutation, Missense, Models, Molecular, Child, Preschool, Infant, Newborn, Female, HSP47 Heat-Shock Proteins, Protein Domains, Pediatric, Rare Diseases, Genetics, Underpinning research, 1.1 Normal biological development and functioning, Developmental Biology, article
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2مورد إلكتروني
المؤلفون: Duran, Ivan
المصدر: Human molecular genetics; vol 24, iss 7, 1918-1928; 0964-6906
مصطلحات الفهرس: Humans, Osteogenesis Imperfecta, Collagen Type I, Tacrolimus Binding Proteins, Procollagen, Pedigree, Sequence Alignment, Amino Acid Sequence, Base Sequence, Protein Transport, Molecular Sequence Data, Adult, Child, Preschool, Female, Male, HSP47 Heat-Shock Proteins, Young Adult, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, article