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56
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Expression and purification of the heme exporter FLVCR1a.
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Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
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Potential Treatment of Retinal Diseases with Iron Chelators.
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A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
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Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa.
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Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
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A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.
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Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection.
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Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.
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Autosomal recessive posterior column ataxia and retinitis pigmentosa.
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An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.
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