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WWOX, 82-KB DEL, EX6-8

National Institutes of Health

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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28

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2012
2012
[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
OBJECTIVE To investigate the correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase (PAH) in… 
2011
2011
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
OBJECTIVE To study the mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase gene (PAH) in Shanxi population… 
2009
2009
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
OBJECTIVE To characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu… 
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