title: Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker, Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perrault
authors.forename: Sylvie
authors.initials: S
authors.lastname: Gerber
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Shomi
authors.initials: S
authors.lastname: Bhattacharya
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: José-Alain
authors.initials: JA
authors.lastname: Sahel
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Thierry
authors.initials: T
authors.lastname: Leveillard
mesh_terms: D000483:Alleles; D000818:Animals; D002470:Cell Survival; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D011994:Recombinant Proteins / Q000737:chemistry; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology*; D017422:Sequence Analysis, DNA; D013879:Thioredoxins / Q000235:genetics* / Q000378:metabolism*
chemical_list: C488098:NXNL1 protein, human; D011994:Recombinant Proteins; D013879:Thioredoxins