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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. Gerber S, et al. Among authors: kaplan j. Hum Genet. 2000 Sep;107(3):276-84. doi: 10.1007/s004390000350. Hum Genet. 2000. PMID: 11071390 Free article.
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: kaplan j. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: kaplan j. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.
3,338 results