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Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa

by Chacon-Camacho, Oscar F., Jitskii, Serguei, Buentello-Volante, Beatriz, Quevedo-Martinez, Jonathan, Zenteno, Juan C.
Published in Gene (10.10.2013)

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Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings

by Chacon-Camacho, Oscar F., Buentello-Volante, Beatriz, Velázquez-Montoya, Roberto, Ayala-Ramirez, Raul, Zenteno, Juan C.
Published in Gene (25.01.2014)

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Journal Article

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Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa

Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings

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