Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. METHODS: 345 participants with a clinical diagnosis of...

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Détails bibliographiques
Publié dans:Br J Ophthalmol
Auteurs principaux: Fujinami, Kaoru, Strauss, Rupert W, Chiang, John (Pei-Wen), Audo, Isabelle S, Bernstein, Paul S, Birch, David G, Bomotti, Samantha M, Cideciyan, Artur V, Ervin, Ann-Margret, Marino, Meghan J, Sahel, José-Alain, Mohand-Said, Saddek, Sunness, Janet S, Traboulsi, Elias I, West, Sheila, Wojciechowski, Robert, Zrenner, Eberhart, Michaelides, Michel, Scholl, Hendrik P N
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2019
Sujets:
Clinical Science
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6579578/
https://ncbi.nlm.nih.gov/pubmed/29925512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2018-312064
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