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:
https://lup.lub.lu.se/record/4291538
- author
- Westman, Julia
LU
; Hellberg, Åsa
LU
; Peyrard, Thierry
; Thuresson, Britt
LU
and Olsson, Martin L
LU
- organization
- publishing date
- 2014
- 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
- pmid:24417201
- 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
- 2016-04-01 10:49:32
- date last changed
- 2022-03-12 17:23:01
@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}},
doi = {{10.1111/trf.12543}},
volume = {{54}},
year = {{2014}},
}