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Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

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第一作者： Árpád,Lábadi

第一单位： Department of Laboratory Medicine (A.L., O.R., A.M., G.L.K.), University of Pécs, 7624 Pécs, Hungary; Department of Clinical Sciences and Community Health (E.S.G., L.P.), University of Milan, 20122 Milan, Italy; Department of Pediatrics and Pediatric Health Care Center (B.G.), University of Szeged, 6720 Szeged, Hungary; Institute of Experimental Pediatric Endocrinology (G.K., H.B.), Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany; First Department of Internal Medicine (B.R., E.M.), University of Pécs, 7624 Pécs, Hungary; Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research (G.G., L.P.), Ospedale San Luca, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy; Szentágothai Research Centre (G.L.K.), University of Pécs, 7624 Pécs, Hungary; HAS-SE "Lendület" Hereditary Endocrine Tumors Research Group (A.P.), 1085 Budapest, Hungary; and Departments of Pediatrics (E.F.) and Internal Medicine (E.V.N.), Faculty of Medicine, University of Debrecen, 4032 Debrecen Hungary.

作者： Árpád,Lábadi ^[1] ; Elisa Stellaria,Grassi ^[1] ; Balázs,Gellén ^[1] ; Gunnar,Kleinau ^[1] ; Heike,Biebermann ^[1] ; Beáta,Ruzsa ^[1] ; Giulia,Gelmini ^[1] ; Orsolya,Rideg ^[1] ; Attila,Miseta ^[1] ; Gábor L,Kovács ^[1] ; Attila,Patócs ^[1] ; Enikő,Felszeghy ^[1] ; Endre V,Nagy ^[1] ; Emese,Mezősi ^[1] ; Luca,Persani ^[1]

作者单位： Department of Laboratory Medicine (A.L., O.R., A.M., G.L.K.), University of Pécs, 7624 Pécs, Hungary; Department of Clinical Sciences and Community Health (E.S.G., L.P.), University of Milan, 20122 Milan, Italy; Department of Pediatrics and Pediatric Health Care Center (B.G.), University of Szeged, 6720 Szeged, Hungary; Institute of Experimental Pediatric Endocrinology (G.K., H.B.), Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany; First Department of Internal Medicine (B.R., E.M.), University of Pécs, 7624 Pécs, Hungary; Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research (G.G., L.P.), Ospedale San Luca, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy; Szentágothai Research Centre (G.L.K.), University of Pécs, 7624 Pécs, Hungary; HAS-SE "Lendület" Hereditary Endocrine Tumors Research Group (A.P.), 1085 Budapest, Hungary; and Departments of Pediatrics (E.F.) and Internal Medicine (E.V.N.), Faculty of Medicine, University of Debrecen, 4032 Debrecen Hungary. ^[1]