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Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
Affected members of a family with autosomal dominant retinitis pigmentosa were found to have a 3 base pair deletion at codon 118 or 119 of the retinal degeneration slow gene. This mutation causes the loss of a highly conserved cysteine residue in the predicted third transmembrane domain of peripheri...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1994
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC504967/ https://ncbi.nlm.nih.gov/pubmed/7848979 |
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