TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Nonsyndromic autosomal-recessive optic neuropathies are rare conditions of unknown genetic and molecular origin. Using an approach of whole-genome homozygosity mapping and positional cloning, we have identified the first gene, to our knowledge, responsible for this condition, TMEM126A, in a large mu...

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Huvudupphovsmän: Hanein, Sylvain, Perrault, Isabelle, Roche, Olivier, Gerber, Sylvie, Khadom, Noman, Rio, Marlene, Boddaert, Nathalie, Jean-Pierre, Marc, Brahimi, Nora, Serre, Valérie, Chretien, Dominique, Delphin, Nathalie, Fares-Taie, Lucas, Lachheb, Sahran, Rotig, Agnès, Meire, Françoise, Munnich, Arnold, Dufier, Jean-Louis, Kaplan, Josseline, Rozet, Jean-Michel
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2009
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667974/
https://ncbi.nlm.nih.gov/pubmed/19327736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.003
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