Author/Editor		Battelino, Tadej; Trebušak-Podkrajšek, Katarina; Avbelj, Magdalena; Kržišnik, Ciril
Title		Genetic diagnostics of monogenic diseases
Translated title		Molekularna diagnostika prirojenih monogenskih bolezni
Type		članek
Source		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,
Publication year		2005
Volume		str. 193-8
Language		eng
Abstract		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.
Descriptors		HEREDITARY DISEASES HEMOPHILIA ADRENAL HYPERPLASIA, CONGENITAL POLYENDOCRINOPATHIES, AUTOIMMUNE MELANOMA HYPOTHYROIDISM GRANULOMATOUS DISEASE, CHRONIC MUTATION