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A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
Kitanaka, Sachiko; Takeda, Ayaka; Sato, Utako; Miki, Yuko; Hishinuma, Akira; Ieiri, Tamio; Igarashi, Takashi.
Afiliação
  • Kitanaka S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. sachi-tky@umin.ac.jp.
  • Takeda A; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan. sachi-tky@umin.ac.jp.
  • Sato U; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Miki Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Hishinuma A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ieiri T; Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Tochigi, Japan.
  • Igarashi T; Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Tochigi, Japan.
J Hum Genet ; 51(4): 379-382, 2006.
Article em En | MEDLINE | ID: mdl-16477365
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tireoglobulina / Tri-Iodotironina / Substituição de Aminoácidos / Hipotireoidismo Congênito / Bócio / Heterozigoto Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2006 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tireoglobulina / Tri-Iodotironina / Substituição de Aminoácidos / Hipotireoidismo Congênito / Bócio / Heterozigoto Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2006 Tipo de documento: Article