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机译:纯合IX型胶原蛋白变体(COL9A1 COL9A1,COL9A2COL9A2和COL9A3 COL9A3)导致隐性瘦牌综合征 - 扩张表型
School of Clinical MedicineUniversity of Cambridge Addenbrooke's HospitalCambridge UK;
School of Clinical MedicineUniversity of Cambridge Addenbrooke's HospitalCambridge UK;
Department of PathologyUniversity of CambridgeCambridge UK;
Department of PathologyUniversity of CambridgeCambridge UK;
Department of RadiologyAddenbrooke's Hospital Cambridge University Hospitals NHS Foundation;
North West Thames Regional Genetic ServicesNorthwick Park Hospitals NHS Foundation TrustLondon UK;
School of Clinical MedicineUniversity of Cambridge Addenbrooke's HospitalCambridge UK;
retina; retinal detachment; sensorineural hearing loss; Stickler; vitreoretinal;
机译:纯合IX型胶原蛋白变体(COL9A1 COL9A1,COL9A2COL9A2和COL9A3 COL9A3)导致隐性瘦牌综合征 - 扩张表型
机译:犬常染色体隐性眼球骨骼发育不良的COL9A2和COL9A3突变
机译:腰椎间盘疾病中COL9A2 / Trp2和COL9A3 / Trp3等位基因的MRI表型:伊朗西南部人群的病例对照研究揭示了男性中显着的Trp3-疾病关联。
机译:COL9a2和COL9a3基因突变在犬常染色体隐性遗传眼 - 骨骼发育不良
机译:鉴定COL9A3中的三种新型纯合变体,导致常染色体隐性枯萎病综合征