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Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS: The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62...

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Detalles Bibliográficos
Autores principales:	Lin, Hsiang-Yu, Chuang, Chih-Kuang, Su, Yi-Ning, Chen, Ming-Ren, Chiu, Hui-Chin, Niu, Dau-Ming, Lin, Shuan-Pei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666204/ https://www.ncbi.nlm.nih.gov/pubmed/26627451 http://dx.doi.org/10.1186/s13023-015-0370-2

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