Publication: Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes
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Neidhardt, J., Barthelmes, D., Farahmand, F., Fleischhauer, J. C., & Berger, W. (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology & Visual Science, 47(4), 1630–1635. https://doi.org/10.1167/iovs.05-1317
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Abstract
PURPOSE: Identification of a novel rhodopsin mutation in a family with retinitis pigmentosa and comparison of the clinical phenotype to a known mutation at the same amino acid position. METHODS: Screening for mutations in rhodopsin was performed in 78 patients with retinitis pigmentosa. All exons and flanking intronic regions were amplified by PCR, sequenced, and compared to the reference sequence derived from the National Center for Biotechnology Information (NCBI, Bethesda, MD) database. Patients were characterized clinically accord
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- Neidhardt, J
- Barthelmes, D
- Farahmand, F
- Fleischhauer, J C
- Berger, W
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Neidhardt, J., Barthelmes, D., Farahmand, F., Fleischhauer, J. C., & Berger, W. (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology & Visual Science, 47(4), 1630–1635. https://doi.org/10.1167/iovs.05-1317