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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Baumann, Matthias, Beaver, Erin M., Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Brief Reports
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars