Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

Por Rozet, J, Perrault, I, Gigarel, N, Souied, E, Ghazi, I, Gerber, S, Dufier, J, Munnich, A, Kaplan, J
Publicado em 2002

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evide...

Por Rozet, J., Gerber, S., Ghazi, I., Perrault, I., Ducroq, D., Souied, E., Cabot, A., Dufier, J., Munnich, A., Kaplan, J.
Publicado em 1999

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

Por Perrault, I, Rozet, J M, Ghazi, I, Leowski, C, Bonnemaison, M, Gerber, S, Ducroq, D, Cabot, A, Souied, E, Dufier, J L, Munnich, A, Kaplan, J
Publicado em 1999

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Por Souied, E, Segues, B, Ghazi, I, Rozet, J M, Chatelin, S, Gerber, S, Perrault, I, Michel-Awad, A, Briard, M L, Plessis, G, Dufier, J L, Munnich, A, Kaplan, J
Publicado em 1997