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Article

CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities.

Transfusion - 1 Jul 2024

Srivastava Kshitij, Yin Qinan, Makuria Addisalem Taye, Rios Maria, Gebremedhin Amha, Flegel Willy Albert

Abstract excerpt

BACKGROUND: CD59 deficiency due to rare germline variants in the CD59 gene causes disabilities, ischemic strokes, neuropathy, and hemolysis. CD59 deficiency due to common somatic variants in the PIG-A gene in hematopoietic stem cells causes paroxysmal nocturnal hemoglobinuria. The ISBT database lists one nonsense and three missense germline variants that are associated with the CD59-null phenotype. To analyze the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38817044
DOI: 10.1111/trf.17869
PMCID: PMC11251854

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