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Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.
Rhodopsin gene mutations appear to cause some forms of autosomal dominant retinitis pigmentosa. In the family described, the mutation called rhodopsin, Val345Met segregated perfectly with the disease. All affected individuals had abnormal ERGs; the two oldest members of this family had more loss of...
Gorde:
| Egile Nagusiak: | , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
1991
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1298619/ https://ncbi.nlm.nih.gov/pubmed/1808803 |
| Etiketak: |
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