Article
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.
Prenatal diagnosis - 1 Sept 2024
Zhu Jingqi, Zhao Zhenhua, Li Shaojun, Zhou Yifan, Kong Lingrong, Fu Xinyu, Li Huanyun, Feng Jun, Tang Weiqin, Wu Di, Kong Xiangdong
Abstract excerpt
BACKGROUND: The clinical performance of RHDO-based NIPD for PKU during early gestation remains under-evaluated. Furthermore, studies focused on SNP loci obtained by next-generation sequencing to analyze the genetic evolution of pathogenic variations in PKU is limited. METHODS: Maternal peripheral blood, along with proband and paternal samples, was collected between 7 and 12 weeks of gestation. The PAH gene and...
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