Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with thi...
Αποθηκεύτηκε σε:
| Εκδόθηκε σε: | Proc Natl Acad Sci U S A |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
National Academy of Sciences
1995
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC40759/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7479749/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.22.10177 |
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