Article

Molecular diagnosis of Phenylketonuria in 157 Families and Prenatal Diagnosis of Phenylketonuria

2019-10-30

Abstract excerpt

<title>Abstract</title> <p>Background Phenylketonuria (PKU) is a genetic metabolic disease with a relatively higher incidence, but only a few studies about the prenatal diagnosis of PKU have been reported so far in China. The aim of this study was to characterize the spectrum of mutations in PAH gene in PKU probands and the prenatal diagnosis of PKU in north China.Methods A total of 157 families in which PKU pati...

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Literature Corpus work: 9af1e5d8-3d53-551a-b02f-0dddb7666593
DOI: 10.21203/rs.2.16584/v1

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