Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onset recessive optic neuropathy, we identified mutations in RTN4IP1, which en...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2015
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Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667133/
https://ncbi.nlm.nih.gov/pubmed/26593267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.09.012
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