[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Josseline
J
Kaplan
Isabelle
I
Perrault
Sylvain
S
Hanein
Hélène
H
Dollfus
Jean-Michel
JM
Rozet
D000818:Animals; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009612:Nicotinamide-Nucleotide Adenylyltransferase / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D012165:Retinal Ganglion Cells / Q000502:physiology
C484007:NMNAT1 protein, human; D009612:Nicotinamide-Nucleotide Adenylyltransferase