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11/09/2013

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa

sep 11th, 2013 #

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa
Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yumolvis HG. Mol Vis. 2012; 18:2398-2410.

Los autores analizan la efectividad de un método de diagnóstico molecular para detectar mutaciones poco frecuentes en pacientes con retinosis pigmentaria y realizan una caracterización fenotípica de los mismos según el defecto molecular encontrado.

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