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Journal of Medical Genetics logoLink to Journal of Medical Genetics
letter
. 1999 Nov;36(11):862–865.

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

H EL-SHANTI, M AL-SALEM, M EL-NAJJAR, K AJLOUNI, J BECK, V SHEFFIELD, E STONE
PMCID: PMC1734263  PMID: 10636733

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