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Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin
Mutations in the RHO gene encoding for the visual pigment protein, rhodopsin, are among the most common cause of autosomal dominant retinitis pigmentosa (ADRP). Previous studies of ADRP mutations in different domains of rhodopsin have indicated that changes that lead to more instability in rhodopsin...
Autores principales: | Mitchell, James, Balem, Fernanda, Tirupula, Kalyan, Man, David, Dhiman, Harpreet Kaur, Yanamala, Naveena, Ollesch, Julian, Planas-Iglesias, Joan, Jennings, Barbara J., Gerwert, Klaus, Iannaccone, Alessandro, Klein-Seetharaman, Judith |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524802/ https://www.ncbi.nlm.nih.gov/pubmed/31100078 http://dx.doi.org/10.1371/journal.pone.0214639 |
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