Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells

Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic mutations in HCLS1 associated protein X-1 (HAX1) are frequently detected in affected individuals, including those of the original pedigree described by Kostmann...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Blood Adv
Main Authors: Pittermann, Erik, Lachmann, Nico, MacLean, Glenn, Emmrich, Stephan, Ackermann, Mania, Göhring, Gudrun, Schlegelberger, Brigitte, Welte, Karl, Schambach, Axel, Heckl, Dirk, Orkin, Stuart H., Cantz, Tobias, Klusmann, Jan-Henning
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2017
Teme:
Phagocytes, Granulocytes, and Myelopoiesis
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5737589/
https://ncbi.nlm.nih.gov/pubmed/29296734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2016003798
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki