A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
FLVCR1 (feline leukemia 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...
| Hlavní autoři: | , , , |
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| Médium: | Journal article |
| Vydáno: |
Taylor and Francis
2017
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