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A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808
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2018 |
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Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925
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Castori M....Chiabrando D.
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2017 |
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Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582
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Shaibani A....Shinawi M.
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2014 |
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Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. ( 22483575
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Yanatori I....Kishi F.
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2012 |
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Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618
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Ishiura H....Tsuji S.
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2011 |
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Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. ( 21261601
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Sutton L.M.
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2011 |
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Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. ( 21070897
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Rajadhyaksha A.M....Higgins J.J.
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2010 |
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A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. ( 15286160
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Valdmanis P.N....DuprAc N.
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2004 |
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Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. ( 10830426
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Higgins J.J....Loveless J.M.
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2000 |
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[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. ( 10614159
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Kikuchi Y....Satoyoshi E.
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1999 |
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Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. ( 9921862
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1999 |
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Autosomal recessive posterior column ataxia and retinitis pigmentosa. ( 9855554
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Berciano J....Polo J.M.
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1998 |
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An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. ( 9409377
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Higgins J.J....Nee L.E.
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1997 |
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Familial posterior column ataxia (Biemond's) with scoliosis. ( 4761598
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