Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations

Erstveröffentlichung

2013

Authors

Stepensky, Polina

Bartram, Jack

Barth, Thomas F. E.

Lehmberg, Kai

Walther, Paul

et al.

Wissenschaftlicher Artikel

Published in

Pediatric Blood and Cancer ; 60 (2013), 7. - S. 1215-1222. - ISSN 1545-5009

Link to publication

https://dx.doi.org/10.1002/pbc.24475

Institutions

UKU. Klinik für Kinder- und Jugendmedizin
UKU. Institut für Pathologie
ZE Elektronenmikroskopie

Subject headings

[Free subject headings]: hemophagocytic | intractable diarrhea | lymphohistiocytosis | microvilluos disease | MUNC18-2 | renal tubular dysfunction | syntaxin binding protein 2 | microvillus inclusion disease | clinical presentations | apical membrane | myo5b mutations | atrophy | stxbp2 | identification | children | spectrum
[DDC subject group]: DDC 610 / Medicine & health

Metadata

Show full item record