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Keywords: phenylketonuria
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Biosci Rep (2021) 41 (2): BSR20201660.
Published: 19 February 2021
... PAH gene were sequenced in 84 cases with phenylketonuria (PKU) diagnosed during neonatal genetic and metabolic disease screening in Shaanxi province, and their mutations were analyzed. We designed and developed a screening kit to detect nine mutation sites covering more than 50% of the PAH mutations...
Includes: Supplementary data