Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

  title={Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies},
  author={J. -M. Rozet and Sylvie Gerber and Eric H Souied and Isabelle Perrault and Sophie Ch{\^a}telin and Imad Ghazi and Corinne Leowski and J L Dufier and Arnold Munnich and Josseline Kaplan},
  journal={European Journal of Human Genetics},
Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Stargardt disease. Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consistently… CONTINUE READING


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Complete exonintron structure of the retina specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

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