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A novel mutation and phenotypes in phosphodiesterase 6 deficiency
PURPOSE: To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6) based RP mutations. DESIGN: Clinical and molecular studies on a retrospective case series. METHODS: We screened 40 unrel...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2593460/ https://ncbi.nlm.nih.gov/pubmed/18723146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2008.06.017 |
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