Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

The study of inherited retinal diseases has advanced our knowledge of the cellular and molecular mechanisms involved in sensory neural signaling. Dysfunction of two specific sensory modalities, vision and proprioception, characterizes the phenotype of the rare, autosomal-recessive disorder posterior...

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Autors principals: Rajadhyaksha, Anjali M., Elemento, Olivier, Puffenberger, Erik G., Schierberl, Kathryn C., Xiang, Jenny Z., Putorti, Maria L., Berciano, José, Poulin, Chantal, Brais, Bernard, Michaelides, Michel, Weleber, Richard G., Higgins, Joseph J.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2978959/
https://ncbi.nlm.nih.gov/pubmed/21070897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.10.013
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