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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Publicat a:Blood
Autors principals: 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
Idioma:Inglês
Publicat: American Society of Hematology 2015
Matèries:
Plenary Paper
Accés en línia: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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