A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-27378-1_33
Reference18 articles.
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2. Castori M, Morlino S, Ungelenk M et al (2017) Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. Am J Med Genet B Neuropsychiatr Genet 174:732–739. https://doi.org/10.1002/ajmg.b.32570
3. Chiabrando D, Castori M, di Rocco M et al (2016) Mutations in the heme exporter FLVCR1 cause sensory neurodegeneration with loss of pain perception. PLoS Genet 12:e1006461. https://doi.org/10.1371/journal.pgen.1006461
4. Choudhury SR, Fitzpatrick Z, Harris AF et al (2016) In vivo selection yields AAV-B1 capsid for central nervous system and muscle gene therapy. Mol Ther 24:1247–1257. https://doi.org/10.1038/mt.2016.84
5. Coppieters F, Leroy BP, Beysen D et al (2007) Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis Pigmentosa. Am J Hum Genet 81:147–157. https://doi.org/10.1086/518426
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