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

doi:10.1111/trf.12543

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

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

Sammanfattning

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.

Originalspråk	engelska
Sidor (från-till)	1831-1835
Tidskrift	Transfusion
Volym	54
Nummer	7
DOI	https://doi.org/10.1111/trf.12543
Status	Published - 2014

Ämnesklassifikation (UKÄ)

Hematologi

Tillgång till dokument

10.1111/trf.12543

http://www.ncbi.nlm.nih.gov/pubmed/24417201?dopt=Abstract

1 Doktorsavhandling (sammanläggning)

Genetics and Expression of Glycosphingolipids in the P1PK and GLOB Histo-Blood Group Systems
Westman, J., 2015, Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University. 102 s.
Forskningsoutput: Avhandling › Doktorsavhandling (sammanläggning)

Citera det här

@article{c9e8b02b049340f585c7789f9335086b,

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

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 = "Julia Westman and {\AA}sa Hellberg and Thierry Peyrard and Britt Thuresson and Olsson, {Martin L}",

year = "2014",

doi = "10.1111/trf.12543",

language = "English",

volume = "54",

pages = "1831--1835",

journal = "Transfusion",

issn = "1537-2995",

publisher = "Wiley-Blackwell",

number = "7",

}

TY - JOUR

T1 - Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

AU - Westman, Julia

AU - Hellberg, Åsa

AU - Peyrard, Thierry

AU - Thuresson, Britt

AU - Olsson, Martin L

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

U2 - 10.1111/trf.12543

DO - 10.1111/trf.12543

M3 - Article

C2 - 24417201

SN - 1537-2995

VL - 54

SP - 1831

EP - 1835

JO - Transfusion

JF - Transfusion

IS - 7

ER -

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

Sammanfattning

Ämnesklassifikation (UKÄ)

Tillgång till dokument

Fingeravtryck

Forskningsoutput

Genetics and Expression of Glycosphingolipids in the P1PK and GLOB Histo-Blood Group Systems

Citera det här