Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1

Megakaryoblastic leukemia 1 (MKL1), also known as MAL or myocardin-related transcription factor A (MRTF-A), is a coactivator of serum response factor, which regulates transcription of actin and actin cytoskeleton–related genes. MKL1 is known to be important for megakaryocyte differentiation and func...

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Veröffentlicht in:Blood
Hauptverfasser: Record, Julien, Malinova, Dessislava, Zenner, Helen L., Plagnol, Vincent, Nowak, Karolin, Syed, Farhatullah, Bouma, Gerben, Curtis, James, Gilmour, Kimberly, Cale, Catherine, Hackett, Scott, Charras, Guillaume, Moulding, Dale, Nejentsev, Sergey, Thrasher, Adrian J., Burns, Siobhan O.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2015
Schlagworte:
Plenary Paper
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4671330/
https://ncbi.nlm.nih.gov/pubmed/26224645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-12-611012
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