- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
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Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS
- KMID: 1104807
- Exp Mol Med.
- 2008 Oct;40(5):533-540.
- doi: 10.3858/emm.2008.40.5.533
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause... -
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