Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.
Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
H V
HV
Tran
IRO-Institute for Research in Ophthalmology, Sion, Switzerland.
E
E
Moret
Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
V
V
Vaclavik
IRO-Institute for Research in Ophthalmology, Sion, Switzerland.
F
F
Marcelli
Department of Ophthalmology of Necker-Enfants-Malades, University Hospital, Paris Descartes University, Paris, France.
M M
MM
Abitbol
Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
F L
FL
Munier
Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
D F
DF
Schorderet
D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D000080362:Stargardt Disease; D013557:Switzerland; D055815:Young Adult
C418975:ELOVL4 protein, human; D005136:Eye Proteins; D005819:Genetic Markers; D008565:Membrane Proteins