The molecular basis of phenylketonuria in Koreans
Dong Hwan Lee, Soo Kyung Koo, Kwang-Soo Lee, Young-Joo Yeon, Hyun-Jeong Oh, Sang Wun Kim, Sook-Jin Lee, Sung Soo Kim, Jong Eun Lee, Inho Jo, Sung‐Chul Jung
Abstract
Dong Hwan Lee, Soo Kyung Koo, Kwang-Soo Lee, Young-Joo Yeon, Hyun-Jeong Oh, Sang Wun Kim, Sook-Jin Lee, Sung Soo Kim, Jong Eun Lee, Inho Jo, Sung‐Chul Jung
Abstract
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Key concepts: Hyperphenylalaninemia, Phenylalanine hydroxylase, Genetics, Missense mutation, Allele, Tetrahydrobiopterin, Genotype, Biology