Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

Julia Westman, Åsa Hellberg, Thierry Peyrard, Britt Thuresson, Martin L Olsson

Research output: Contribution to journalArticlepeer-review

6 Citations (SciVal)

Abstract

Cells of the clinically important p histo-blood group phenotype lack P1, P(k) , and P glycosphingolipid antigens. All cases investigated so far are due to alterations in the 4-α-galactosyltransferase-encoding Exon 3 of A4GALT. Repetitive elements in the genome can mediate DNA rearrangements, the most abundant being the Alu family of repeats.
Original languageEnglish
Pages (from-to)1831-1835
JournalTransfusion
Volume54
Issue number7
DOIs
Publication statusPublished - 2014

Subject classification (UKÄ)

  • Hematology

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