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Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation.
Liu, Shiguo; Han, Wenxiu; Zang, Yucui; Zang, Hongwei; Wang, Fang; Jiang, Pei; Wei, Hongwei; Liu, Xiangju; Wang, Yangang; Ma, Xu; Ge, Yinlin.
Affiliation
  • Liu S; Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Han W; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Zang Y; Department of Biochemistry and Molecular Biology, Medical School of Qingdao University, Qingdao, China.
  • Zang H; Institute of Clinical Pharmacy, Jining First People's Hospital, Jining Medical University, Jining, China.
  • Wang F; Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Jiang P; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Wei H; Department of Biochemistry and Molecular Biology, Medical School of Qingdao University, Qingdao, China.
  • Liu X; Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Wang Y; Institute of Clinical Pharmacy, Jining First People's Hospital, Jining Medical University, Jining, China.
  • Ma X; Center of Newborn Screening, Linyi Women and Children Hospital, Linyi, China.
  • Ge Y; Prenatal Diagnosis Center, Taian Maternal and Child Health Hospital, Taian, China.
Article in En | MEDLINE | ID: mdl-31428054

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Endocrinol (Lausanne) Year: 2019 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Endocrinol (Lausanne) Year: 2019 Document type: Article Affiliation country: Country of publication: