Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Hanein
Sylvain
S
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker, Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
Perrault
Isabelle
I
Gerber
Sylvie
S
Dollfus
Hélène
H
Dufier
Jean-Louis
JL
Feingold
Josué
J
Munnich
Arnold
A
Bhattacharya
Shomi
S
Kaplan
Josseline
J
Sahel
José-Alain
JA
Rozet
Jean-Michel
JM
Leveillard
Thierry
T
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*
C488098:NXNL1 protein, human; D011994:Recombinant Proteins; D013879:Thioredoxins