Avtor/Urednik		Avbelj, Magdalena; Trebušak-Podkrajšek, Katarina; Bratanič, Nina; Kržišnik, Ciril; Battelino, Tadej
Naslov		Molecular diagnostics of congenital hypothyroidism
Prevedeni naslov		Molekularna diagnostika pri kongenitalni hipotireozi
Tip		članek
Vir		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Leto izdaje		2005
Obseg		str. 263-7
Jezik		eng
Abstrakt		Congenital hypothyroidism is a congenital endocrine disorder with severe consequences if not treated. A short overview of the known causative molecular defects is presented. Molecular analysis of the TPO gene was recently introduced at the Centre for Medical Genetics at the University Children's Hospital Ljubljana. TPO gene analysis is being performed in patients with thyroid dyshormonogenesis. The methods used and results obtained in the investigated population are explained.
Deskriptorji		HYPOTHYROIDISM POLYMERASE CHAIN REACTION