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Letters to the Journal

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes

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References

  • Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish genetic diseases. Hum Mutat 2010;31:1240–1250.
  • Stone EM, Luo X, Heon E, et al. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK Gene. Invest Ophthalmol Vis Sci 2011;52:9665–9673.
  • Venturini G, Koskiniemi-Kuendig H, Harper S, et al. Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genet Med 2015;17:285–290.
  • van Genderen MM, Bijveld MM, Claassen YB, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet 2009;2009(85):730–736.
  • Wycisk KA, Zeitz C, Feil S, et al. Mutation in the auxillary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet 2006;79:973–977.
  • Ba-Abbad R, Arno G, Carss K, et al. Mutations in CACNA2D4 cause distinctive retinal dysfunction in humans. Ophthalmology 2016;123:668–671.

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