Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
与外周蛋白-2相关的视网膜营养不良:241例患者的遗传谱和新的临床观察
期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.65.5.22
Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Chelva, Enid S; Armstrong, Sean; Pulido, Jose S; Procopio, Rebecca; Vincent, Andrea L; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Antonelli, Giulio; Barbano, Lucilla; Marques, João P; Geada, Sara; Carvalho, Ana L; Tang, Wei C; Chan, Choi M; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Borooah, Shyamanga; Ayton, Lauren N; Britten-Jones, Alexis Ceecee; Edwards, Thomas L; Ruddle, Jonathan B; Sharma, Abhishek; Porter, Rowan G; Lamey, Tina M; McLaren, Terri L; McLenachan, Samuel; Roshandel, Danial; Chen, Fred K