Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

The wide range of metabolic phenotypes in phenylketonuria is due to a large number of variants causing variable impairment in phenylalanine hydroxylase function. A total of 834 phenylalanine hydroxylase gene variants from the locus-specific database PAHvdb and genotypes of 4181 phenylketonuria patie...

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Bibliographic Details
Main Authors:	Wettstein, S, Underhaug, J, Perez, B, Marsden, B, Yue, W, Martinez, A, Blau, N
Format:	Journal article
Language:	English
Published:	Nature Publishing Group 2014

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