Author/Editor		Battelino, T; Trebušak, K; Repič-Lampret, B; Kržišnik, C
Title		Mutacije v genu za transkripcijski regulator AIRE pri slovenskih bolnikih z avtoimunskim poliglandularnim sindromom (APS)
Translated title		Mutations in the autoimmune regulator (AIRE) gene in Slovenian patients with autoimmune polyglandular syndrome (APS)
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 117-9
Language		slo
Abstract		New insights on the etiology of autoimmune polyglandular syndrome (APS) and its association with the mutations in the AIRE gene are discussed. Clinical signs of three Slovenian patients with APS and molecular diagnostics performed in our own laboratory are presented.
Summary		Prispevek opisuje nova spoznanja o etiologiji avtoimunskega poliglandularnega sindroma (APS). Orisana je vloga gena AIRE. Prikazane so klinične značilnosti treh slovenskih bolnikov z APS in molekularna diagnostika, ki je bila opravljena v lastnem laboratoriju.
Descriptors		POLYENDOCRINOPATHIES, AUTOIMMUNE GENES, REGULATOR TRANSCRIPTION FACTORS POLYMERASE CHAIN REACTION POLYMORPHISM, RESTRICTION FRAGMENT LENGTH