2. Academic Validation
  3. RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

  • Blood. 2022 Mar 3;139(9):1413-1418. doi: 10.1182/blood.2021012334.
Sandeep N Wontakal 1,  Mishan Britto 2,  Huan Zhang 3,  Yongshuai Han 3,  Chengjie Gao 3,  Sarah Tannenbaum 4,  Benjamin H Durham 1 5,  Margaret T Lee 4,  Xiuli An 3,  Masanori Mishima 2
Affiliations

Affiliations

  • 1 Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • 2 Centre for Mechanochemical Cell Biology & Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry, United Kingdom.
  • 3 Laboratory of Membrane Biology, New York Blood Center, New York, NY.
  • 4 Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; and.
  • 5 Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
PMID: 34818416 DOI: 10.1182/blood.2021012334
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