Novel Homozygous AIRE Mutation in a German Patient with Severe APECED

Erstveröffentlichung
2008Authors
von Schnurbein, J.
Lahr, G.
Posovszky, C.
Debatin, Klaus-Michael
Wabitsch, Martin
Wissenschaftlicher Artikel
Published in
Journal of Pediatric Endocrinology and Metabolism ; 21 (2008), 10. - S. 1003-1009. - ISSN 0334-018X
Institutions
UKU. Klinik für Kinder- und JugendmedizinSubject headings
[Free subject headings]: APECED | AIRE | enterochromaffin cells | CTLA4 | PTPN22 | multiple sclerosis | candidiasis ectodermal dystrophy | syndrome type-i | multiple-sclerosis | autoimmune-diseases | diabetes-mellitus | type-1 | gene | susceptibility | identification | polymorphisms[DDC subject group]: DDC 610 / Medicine & health