Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

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作者： Stephen,J. ^[1] ; Shukla,A. ^[2] ; Dalal,A. ^[3] ; Girisha,K.M. ^[4] ; Shah,H. ^[5] ; Gupta,N. ^[6] ; Kabra,M. ; Dabadghao,P. ; Phadke,S.R.

作者单位： Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow ^[1] Pediatric Orthopaedics Service, Department of Orthopaedics, Kasturba Medical College, Manipal ^[2] Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow ^[3] Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal, Manipal ^[4] Department of Paediatrics, Genetics Unit, All India Institute of Medical Sciences, New Delhi, India ^[5] Diagnostic Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India ^[6]

关键词 COL1A1 COL1A2 India Mutation Osteogenesis imperfecta

发布时间 2015-03-11

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