Abstract
The goal of our research is to determine the genes and mutations causing autosomal dominant retinitis pigmentosa (adRP) and related diseases. As is now common knowledge, this deceptively-simple goal is confounded by the exceptional heterogeneity of retinitis pigmentosa and other forms of retinal degeneration. This heterogeneity includes allelic heterogeneity, i.e., different mutations in the same gene causing different clinical phenotypes or modes of inheritance; genetic heterogeneity, i.e., different genes causing similar diseases; and clinical heterogeneity, i.e., the same gene—even the same allele—causing disimilar diseases in different individuals, even within the same family.
Keywords
- Positional Cloning
- Retinitis Pigmentosa
- Glutamate Pyruvate Transaminase
- Retinal Degeneration
- Linkage Testing
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Daiger, S.P. et al. (1997). Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24). In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Degenerative Retinal Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5933-7_30
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DOI: https://doi.org/10.1007/978-1-4615-5933-7_30
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