Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

ACTB encodes β‐cytoplasmic actin, an essential component of the cytoskeleton. Based on chromosome 7p22.1 deletions that include the ACTB locus and on rare truncating ACTB variants, a phenotype resulting from ACTB haploinsufficiency was recently proposed. We report putative ACTB loss‐of‐function vari...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Baumann, Matthias, Beaver, Erin M., Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7155001/
https://ncbi.nlm.nih.gov/pubmed/31898838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23970
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