Genetic testing for achromatopsia
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Sciendo
2017-10-01
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| Collection: | The EuroBiotech Journal |
| Accès en ligne: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.03 |
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