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Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis  Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique.

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Presentation on theme: "Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis  Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique."— Presentation transcript:

1 Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis 
Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet  The American Journal of Human Genetics  Volume 75, Issue 4, Pages (October 2004) DOI: /424889 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees and segregation analysis of RDH12 disease-causing mutations in eight families with LCA The American Journal of Human Genetics  , DOI: ( /424889) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Amino acid sequences of human and mouse RDH12 and of human RDH8, RDH10, RDH11, RDH13, and RDH14, deduced from cDNA sequences (GenBank accession numbers BC025724, BC016204, NM_015725, BC067131, BC011727, BC009881, and BC009830, respectively) and conservation of amino acids mutated in patients with LCA. The American Journal of Human Genetics  , DOI: ( /424889) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

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