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New molecular basis associated with CD36-negative phenotype in the sub-Saharan African population.

Emilie Le ToriellecVintuya MuralitharanPhilippe ChadebechAlicia JouardHélène Ansart-PirenneFrançoise PirenneChristophe TournamilleLaure Croisille
Published in: Transfusion (2020)
Flow cytometric analysis on the patient's blood samples allowed the diagnosis of Type I CD36 deficiency. CD36 antibodies, probably due to her past history of red blood cell transfusions, were identified by MAIPA and by Luminex technology assay. Interestingly, we identified through sequencing a new molecular basis involved in CD36 deficiency: two adenines were replaced by one guanine in Exon 4 (c.367_368delAAinsG) leading to a stop codon at Position 76.
Keyphrases
  • red blood cell
  • nk cells
  • high throughput
  • case report
  • single cell
  • smoking cessation
  • high throughput sequencing