A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

CONTEXT: Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T(4) affinity, causes artefactual elevation of free T(4) concentrations in euthyroid individuals. OBJECTIVE: Four unrelated index cases with discordant thyroid function tests in different...

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Autori principali: Schoenmakers, Nadia, Moran, Carla, Campi, Irene, Agostini, Maura, Bacon, Olivia, Rajanayagam, Odelia, Schwabe, John, Bradbury, Sonia, Barrett, Timothy, Geoghegan, Frank, Druce, Maralyn, Beck-Peccoz, Paolo, O'Toole, Angela, Clark, Penelope, Bignell, Michelle, Lyons, Greta, Halsall, David, Gurnell, Mark, Chatterjee, Krishna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2014
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JCEM Online: Advances in Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4191552/
https://ncbi.nlm.nih.gov/pubmed/24646103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-4077
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