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Original Article

Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations

Han-Wook Yoo

Clin Exp Pediatr. 1999;42(7):900-910. Published online July 15, 1999

Purpose : This study was undertaken to characterize molecular defects in Korean families with ornithine transcarbamylase(OTC) deficiency, correlate it with phenotype using in vitro expression study, and utilize it for making prenatal molecular diagnosis. Methods : To investigate molecular lesions resulting in OTC deficiency in 15 unrelated Korean families, the OTC genes of probands were amplified exon by exon and analyzed...

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