The molecular basis of phenylketonuria in Koreans

@article{Lee2004TheMB,
  title={The molecular basis of phenylketonuria in Koreans},
  author={Dong Hwan Lee and Soo Kyung Koo and Kwang Soo Lee and Young Joo Yeon and Hyun-Jeong Oh and Sang-Wun Kim and Sook-Jin Lee and Sung-Soo Kim and Jong-Eun Lee and Inho Jo and Sung-Chul Jung},
  journal={Journal of Human Genetics},
  year={2004},
  volume={49},
  pages={617-621}
}
AbstractPhenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of 79 independent Korean patients with PKU or hyperphenylalaninemia. PAH nucleotide sequence analysis revealed 39 different mutations, including ten novel mutations. The novel mutations consisted of nine missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I, and A447P) and a novel splice site variant (IVS10−3C>G… 
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TLDR
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TLDR
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