Literature DB >> 10636733

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 C Sheffiled, E M Stone.   

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Year:  1999        PMID： 10636733      PMCID： PMC1734263     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

Review 1.  Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.

Authors:  Sukanya Karan; Jeanne M Frederick; Wolfgang Baehr
Journal:  Mol Cell Biochem       Date:  2009-12-09       Impact factor: 3.396

2.  Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

Authors:  Rahel Zulliger; Muna I Naash; Raju V S Rajala; Robert S Molday; Seifollah Azadi
Journal:  J Biol Chem       Date:  2014-12-04       Impact factor: 5.157

3.  The Impact of Genetic Diseases on Jordanians: Strategies Towards Prevention.

Authors:  Hatem El-Shanti
Journal:  J Biomed Biotechnol       Date:  2001
  3 in total

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