Etiology of osteogenesis imperfecta: an overview of biochemical and molecular genetic analyses.
Byers
P H
PH
Departments of Pathology and Medicine, University of Washington, Seattle, WA 98195, USA.
D000328:Adult; D002648:Child; D003094:Collagen / Q000235:genetics / Q000378:metabolism; D024042:Collagen Type I / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis / Q000592:standards / Q000639:trends; D015316:Genetic Therapy / Q000379:methods / Q000639:trends; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003094:Collagen