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Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad, Rathi; Chan, Li F; Hughes, Claire R; Kaski, Juan P; Kowalczyk, Julia C; Savage, Martin O; Peters, Catherine J; Nathwani, Nisha; Clark, Adrian J L; Storr, Helen L; Metherell, Louise A.
Affiliation
  • Prasad R; Centre for Endocrinology (R.P., L.F.C., C.R.H., J.C.K., M.O.S., A.J.L.C., H.L.S., L.A.M.), Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom; Inherited Cardiovascular Diseases Unit (J.P.K.), Department of Cardiology, Great Ormond St Hospital for Children, and Department of Paediatric Endocrinology (C.J.P.), Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom; and Department
J Clin Endocrinol Metab ; 99(8): E1556-63, 2014 Aug.
Article in En | MEDLINE | ID: mdl-24601690

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Insufficiency / Steroid Metabolism, Inborn Errors / Thioredoxin Reductase 2 / Mutation Type of study: Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Insufficiency / Steroid Metabolism, Inborn Errors / Thioredoxin Reductase 2 / Mutation Type of study: Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article