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A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

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Dades bibliogràfiques
Publicat a:Eye (Lond)
Autors principals: Schnieders, M J, Goar, W, Griess, M, Roos, B R, Scheetz, T E, Stone, E M, Fingert, J H
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5898874/
https://ncbi.nlm.nih.gov/pubmed/29350691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2017.303
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