Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed...

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Detalhes bibliográficos
Main Authors: Sergouniotis, Panagiotis I., Chakarova, Christina, Murphy, Cian, Becker, Mirjana, Lenassi, Eva, Arno, Gavin, Lek, Monkol, MacArthur, Daniel G., Bhattacharya, Shomi S., Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Wolfrum, Uwe, Webster, Andrew R., Plagnol, Vincent
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067560/
https://ncbi.nlm.nih.gov/pubmed/24791901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.04.003
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