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

Westman, Julia LU ; Hellberg, Åsa LU ; Peyrard, Thierry; Thuresson, Britt LU and Olsson, Martin L LU (2014) In Transfusion 54(7). p.1831-1835
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.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Transfusion
volume
54
issue
7
pages
1831 - 1835
publisher
Wiley-Blackwell
external identifiers
  • pmid:24417201
  • wos:000340600100020
  • scopus:84904463858
ISSN
1537-2995
DOI
10.1111/trf.12543
language
English
LU publication?
yes
id
c9e8b02b-0493-40f5-85c7-789f9335086b (old id 4291538)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24417201?dopt=Abstract
date added to LUP
2014-02-07 10:39:13
date last changed
2017-01-01 03:55:48
@article{c9e8b02b-0493-40f5-85c7-789f9335086b,
  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.},
  author       = {Westman, Julia and Hellberg, Åsa and Peyrard, Thierry and Thuresson, Britt and Olsson, Martin L},
  issn         = {1537-2995},
  language     = {eng},
  number       = {7},
  pages        = {1831--1835},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion},
  title        = {Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.},
  url          = {http://dx.doi.org/10.1111/trf.12543},
  volume       = {54},
  year         = {2014},
}