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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: | , , , , , , , , , , , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Elsevier
2009
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| Ämnen: | |
| 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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