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...
मुख्य लेखकों: | Yusuf, I, Shanks, M, Clouston, P, Maclaren, R |
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स्वरूप: | Journal article |
प्रकाशित: |
Taylor and Francis
2017
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