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Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi, Árpád; Grassi, Elisa Stellaria; Gellén, Balázs; Kleinau, Gunnar; Biebermann, Heike; Ruzsa, Beáta; Gelmini, Giulia; Rideg, Orsolya; Miseta, Attila; Kovács, Gábor L; Patócs, Attila; Felszeghy, Eniko; Nagy, Endre V; Mezosi, Emese; Persani, Luca.
Afiliação
  • Lábadi Á; 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,
  • Grassi ES; 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,
  • Gellén B; 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,
  • Kleinau G; 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,
  • Biebermann H; 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,
  • Ruzsa B; 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,
  • Gelmini G; 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,
  • Rideg O; 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,
  • Miseta A; 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,
  • Kovács GL; 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,
  • Patócs A; 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,
  • Felszeghy E; 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,
  • Nagy EV; 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,
  • Mezosi E; 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,
  • Persani L; 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,
J Clin Endocrinol Metab ; 100(7): E1039-45, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25978107
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores da Tireotropina / Mutação de Sentido Incorreto / Hipotireoidismo Congênito Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores da Tireotropina / Mutação de Sentido Incorreto / Hipotireoidismo Congênito Idioma: En Ano de publicação: 2015 Tipo de documento: Article