Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D. In addition, sequence a...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Hum Genet
मुख्य लेखकों: Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2016
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070892/
https://ncbi.nlm.nih.gov/pubmed/26626312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.241
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