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The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is impor...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Sci Rep
Κύριοι συγγραφείς: Motta, Fabiana Louise, Salles, Mariana Vallim, Costa, Karita Antunes, Filippelli-Silva, Rafael, Martin, Renan Paulo, Sallum, Juliana Maria Ferraz
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group UK 2017
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561187/
https://ncbi.nlm.nih.gov/pubmed/28819299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-09035-1
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