NewsEXCLI JOURNALThursday, May 7, 2026 · May 7, 2026
Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.
WHY IT MATTERS
Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
Loss-of-function variants in the human phenylalanine hydroxylase ( PAH ) gene are the most common genetic causal factors for Phenylketonuria (PKU). Currently, a broad spectrum of variations is recognized in the human PAH gene. However, the molecular function and clinical significance of some novel P...
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