Publications by authors named "Hedi L Claasen-van der Grinten"
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
Katarina Trebusak Podkrajsek Tatjana Milenković Roelof J Odink Hedi L Claasen-van der Grinten Nina Bratanic
Eur J Endocrinol
November 2008
Objective: Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.
Design: AIRE mutation detection was performed in a cohort of 11 patients.