Identification of three novel missense PKU mutations among Chinese

Daiger, 1989, Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU), Am. J. Hum. Genet, 45, 319 DiLella, 1988, Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction, Lancet, 1, 497, 10.1016/S0140-6736(88)91295-0 Gu¨tler, 1980, Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood, Acta Pediatr. Scand. [Suppl.], 280, 1 Liu, 1986, Newborn screening for phenylketonuria in eleven districts, Chi. Med. J., 99, 113 Svensson, 1991, Two missense mutations causing hyperphenylalaninemia associated with DNA haplotype 12, Hum. Mutation Wang, 1990, Molecular genetics of PKU in eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene, Somat. Cell Mol. Genet., 16, 85, 10.1007/BF01650483 Wang, 1991, Founder effect of a prevalent PKU mutation in Oriental populations, 88, 2146 Wang, 1989, Molecular genetics of PKU in Orientals: Linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene, Am. J. Hum. Genet., 45, 675 Wang, 1991, Missense mutations prevalent in Orientals with phenylketonuria: Molecular characterization and clinical implications, Genomics, 10, 449, 10.1016/0888-7543(91)90331-8 Wang, 1991, Identification of a novel phenylketonuria (PKU) mutation in Chinese: Further evidence for multiple origins of PKU in Asia, Am. J. Hum. Genet., 48, 628 Wang, 1992, Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus, Genomics, 13, 230, 10.1016/0888-7543(92)90229-L