Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

Autor: Hester Y. Kroes, Arthur A.B. Bergen, Bert Smeets, Judith C. Booij, Arne Bakker, Jamilia Kulumbetova, Joke B. G. M. Verheij, Caroline C W Klaver, Ralph J. Florijn, Youssef Moutaoukil, Mary J. van Schooneveld

Publikováno v: Ophthalmology, 118, 160-167. Elsevier B.V.
Ophthalmology, 118(1), 160-U268. Elsevier Science
Ophthalmology, 118(1), 160-U268. Elsevier Inc.
Ophthalmology, 118(1), 160-U268. ELSEVIER SCIENCE INC

Purpose: To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes. Design: Evidence-based study. Participants: Sixty patients with a variety of retinal disorders, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aba988cccec4d9663dea97cb56ef355
https://doi.org/10.1016/j.ophtha.2010.04.022