Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: PCBD1[original query] |
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Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. PloS one 2014 9 (4): e94100. Gu Ying, Lu Kangmo, Yang Guanghui, Cen Zhong, Yu Li, Lin Lin, Hao Jing, Yang Zhigang, Peng Jiabao, Cui Shujian, Huang Ji |
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients. Journal of pediatric endocrinology & metabolism : JPEM 2018 7 31 (8): 911-916. Li Nana, Yu Ping, Rao Bin, Deng Ying, Guo Yixiong, Huang Yushan, Ding Lijie, Zhu Jun, Yang Huanming, Wang Jian, Guo Jian, Chen Fang, Liu Zh |
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort. Endocrinology, diabetes & metabolism 2022 Oct e372. Billings Liana K, Shi Zhuqing, Resurreccion W Kyle, Wang Chi-Hsiung, Wei Jun, Pollin Toni I, Udler Miriam S, Xu Jianfe |
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing. Biomedicines 2023 7 11 (7): . Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavalla |
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