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Keywords: gene mutation
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Biosci Rep (2021) 41 (2): BSR20201660.
Published: 19 February 2021
... dried blood samples from PKU families were used for clinical verification of the newly developed kit. PAH gene mutations were detected in 84 children diagnosed with PKU. A total of 159 mutant alleles were identified, consisting of 100 missense mutations, 28 shear mutations, 24 nonsense mutations, and 7...
Includes: Supplementary data