Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemia

作者：Yi Feng, Sichi Liu, Chengfang Tang, Xiang Jiang, Fang Tang, Bei Li, Xuefang Jia, Qianyu Chen, Jilian Liu, Yonglan Huang · 发表于：Clinica Chimica Acta · 年份：2018 · DOI：10.1016/j.cca.2018.09.002 · 被引用次数：16 · 研究领域：Metabolism and Genetic Disorders、Metabolomics and Mass Spectrometry Studies、RNA modifications and cancer