Výsledky vyhledávání - "Ramon Albero-Gamboa"

A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes

Autor: Ramon Albero-Gamboa, Fernando Palos-Paz, Joaquin Lado-Abeal, Isabel Castro-Piedras, Jose Ignacio Labarta-Aizpún

Publikováno v: Thyroid : official journal of the American Thyroid Association. 21(2)

Resistance to thyrotropin (TSH) causes congenital hypothyroidism (CH). TSH receptor (TSHR) and adenylate cyclase-stimulating G alpha protein subunit (GNAS) loss-of-function mutations cause TSH resistance. We describe a family with TSH resistance and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa6a5c554087a5b85f340d11fb9693b
https://pubmed.ncbi.nlm.nih.gov/21186955

Zobrazit plný text záznamu

Akademický článek

A Family with Congenital Hypothyroidism Caused by a Combination of Loss-of-Function Mutations in the Thyrotropin Receptor and Adenylate Cyclase-Stimulating G Alpha-Protein Subunit Genes.

Autor: Joaquin Lado-Abeal, Isabel Castro-Piedras, Fernando Palos-Paz, Jose Ignacio Labarta-Aizpún, Ramon Albero-Gamboa

Publikováno v: Thyroid; Feb2011, Vol. 21 Issue 2, p103-109, 7p

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání