Large deletions involving the regulatory upstream regions ofA4GALTgive rise to principally novel P1PK-null alleles

Autor:	Åsa Hellberg, Julia S. Westman, Britt Thuresson, Thierry Peyrard, Martin L. Olsson
Rok vydání:	2014
Předmět:	Genetics Immunology Hematology Glycosphingolipid Biology Genome Phenotype Dna rearrangements Null allele Exon chemistry.chemical_compound Antigen chemistry Immunology and Allergy
Zdroj:	Transfusion. 54:1831-1835
ISSN:	0041-1132
DOI:	10.1111/trf.12543
Popis:	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.
Databáze:	OpenAIRE
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