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  • Ruth Gershoni-baruch, Ada Rosenmann, Sara Droetto, Stuart A. Holmes, R. K. Tripathi, Richard A. Spritz
  • Biology, Medicine
  • American journal of human genetics
  • 1994 (First Publication: 1 April 1994)
  • We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detectedExpand
  • Anat Beit-Ya'acov, Liliana Mizrahi-Meissonnier, +5 authors Dror Sharon
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 2007 (First Publication: 1 September 2007)
  • PURPOSE To clinically characterize and genetically analyze members of six families who reside in the same village and manifest a rare form of retinal degeneration. METHODS Ophthalmic evaluationExpand
  • Nira Schreyer-Shafir, Marjan Huizing, +9 authors Anat Blumenfeld
  • Medicine, Biology
  • Human mutation
  • 2006 (First Publication: 1 November 2006)
  • An extended, highly consanguineous Israeli Bedouin family with at least 20 individuals exhibiting a unique phenotype of oculocutaneous albinism (OCA) was identified. All known OCA genes were excludedExpand