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A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

Over 45 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa, including a cluster near the extreme carboxy-terminus, a region of the protein for which no function has yet been assigned. To elucidate the biochemical defect(s) in this group of m...

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Dades bibliogràfiques
Publicat a:J Neurosci
Autors principals: Sung, CH, Makino, C, Baylor, D, Nathans, J
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6576989/
https://ncbi.nlm.nih.gov/pubmed/7523628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.14-10-05818.1994
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