Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Minor GPI(-) granulocyte populations in aplastic anemia and healthy individuals derived from a few PIGA-mutated hematopoietic stem progenitor cells.
Mizumaki H et al.
Blood Cancer Journal, 2023
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Bayat A et al.
Clinical Genetics, 2023
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A et al.
Epilepsy Research, 2021
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
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