Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutatio...
Shranjeno v:
| izdano v: | Proc Natl Acad Sci U S A |
|---|---|
| Principais autores: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
1991
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52716/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1833777/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.20.9370 |
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