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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Detalhes bibliográficos
Publicado no:Blood
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Plenary Paper
Acesso em linha: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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