Skip to Main Content

Paper Details

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Nat Commun
33
2018
-CYA, -cytoplasmic actin, 3'-coding region, ABPs, ACTB, BWCFF, Baraitser-Winter Cerebrofrontofacial syndrome, CYA, CYA filament, Patients, actin, actin binding proteins, derived fibroblasts, developmental disability, exons 5 and 6, megakaryocytes, microcephaly, patient, patient-derived megakaryocytes, patients, platelet anisotropy, syndromic thrombocytopenia, thrombocytes, thrombocytopenia
Author NameAffiliation
Nadja EhmkeInstitute of Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Nadja EhmkeBerlin Institute of Health
Michael C FrühwaldSwabian Children's Cancer Center, Children's Hospital Augsburg
Denise HornInstitute of Medical and Human Genetics, Charite-Universitatsmedizin Berlin
  • 1 - 4

Datasets

Release 1.2