Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.M183K
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A4GALT

NM_017436.7:p.M183K

Associated Papers

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

Westman JS et al.

Transfusion, 2014

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.

Westman JS et al.

Transfusion, 2013

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.

Wang YC et al.

Transfusion Medicine (oxford, England), 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection.

Hellberg A et al.

British Journal of Haematology, 2004

Additional molecular bases of the clinically important p blood group phenotype.

Hellberg A et al.

Transfusion, 2003

Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.

Koda Y et al.

Transfusion, 2002

Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals.

Furukawa K et al.

The Journal of Biological Chemistry, 2000

Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype.

Steffensen R et al.

The Journal of Biological Chemistry, 2000

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