Avtor/Urednik		Battelino, Tadej; Trebušak-Podkrajšek, Katarina; Avbelj, Magdalena; Kržišnik, Ciril
Naslov		Genetic diagnostics of monogenic diseases
Prevedeni naslov		Molekularna diagnostika prirojenih monogenskih bolezni
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. 193-8
Jezik		eng
Abstrakt		The Centre for Medical Genetics at University Children's Hospital Ljubljana includes clinical genetics through the laboratory for medical genetics. The principles of the mutation detection methods used in the laboratory for medical genetics are described, together with examples of disorders that are routinely diagnosed.
Deskriptorji		HEREDITARY DISEASES HEMOPHILIA ADRENAL HYPERPLASIA, CONGENITAL POLYENDOCRINOPATHIES, AUTOIMMUNE MELANOMA HYPOTHYROIDISM GRANULOMATOUS DISEASE, CHRONIC MUTATION