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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online: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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