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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...

詳細記述

保存先:
書誌詳細
出版年:Ophthalmic Genet
主要な著者: Yusuf, Imran H., Shanks, Morag E, Clouston, Penny, MacLaren, Robert E.
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
オンライン・アクセス: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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