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  • A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan

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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan

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              EL-SHANTI H, AL-SALEM M, EL-NAJJAR M, et al
              A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
              Journal of Medical Genetics 1999;36:862-865.

              Publication history

              • First published November 1, 1999.
              Online issue publication 
              April 27, 2016

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              Journal of Medical Genetics