Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AV...

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Xehetasun bibliografikoak
Egile Nagusiak: Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2013
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769927/
https://ncbi.nlm.nih.gov/pubmed/23993198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.018
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