Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg)

por Li, Hua, Deng, Mei, Guo, Li, Qiu, Jian-Wu, Lin, Gui-Zhi, Long, Xiao-Ling, Xiao, Xiao-Min, Song, Yuan-Zong
Publicado 2019

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

por Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Publicado 2013

Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

por Deng, Li‐Jing, Ouyang, Wen‐Xian, Liu, Rui, Deng, Mei, Qiu, Jian‐Wu, Yaqub, Muhammad‐Rauf, Raza, Muhammad‐Atif, Lin, Wei‐Xia, Guo, Li, Li, Hua, Chen, Feng‐Ping, Ouyang, Ying, Huang, Yu‐Ge, Huang, Yue‐Jun, Long, Xiao‐Ling, Huang, Xiao‐Ling, Li, Shuang‐Jie, Song, Yuan‐Zong
Publicado 2021