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A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
FLVCR1 (feline leukaemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here we describe...
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| Publicado en: | Ophthalmic Genet |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5841564/ https://ncbi.nlm.nih.gov/pubmed/29192808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1408848 |
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