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

Árpád Lábadi | Zendy; Elisa Grassi | Zendy; Balázs Gellén | Zendy; Gunnar Kleinau | Zendy; Heike Biebermann | Zendy; Beáta Ruzsa | Zendy; Giulia Gelmini | Zendy; Orsolya Rideg | Zendy; Attila Miseta | Zendy; Gábor L. Kovaćs | Zendy; Attila Patócs | Zendy; Enikő Felszeghy | Zendy; Endre V. Nagy | Zendy; Emese Mezősi | Zendy; Luca Persani | Zendy

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

Author(s) -

Árpád Lábadi,

Elisa Grassi,

Balázs Gellén,

Gunnar Kleinau,

Heike Biebermann,

Beáta Ruzsa,

Giulia Gelmini,

Orsolya Rideg,

Attila Miseta,

Gábor L. Kovaćs,

Attila Patócs,

Enikő Felszeghy,

Endre V. Nagy,

Emese Mezősi,

Luca Persani

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-4511

Subject(s) - missense mutation , endocrinology , receptor , medicine , mutation , genetics , congenital hypothyroidism , exon , biology , gene , thyroid

Congenital hypothyroidism (CH) is one of the most common inborn endocrine disorders with genetic background. Despite the well-established newborn CH screening program in Hungary, no systematic examination of the underlying genetic alterations has been performed as yet.

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