A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12288-023-01669-8.pdf
Reference21 articles.
1. Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human Secretor blood group ɑ(1, 2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270:4640–4649
2. Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human gnomic region containing the H blood group (1,2)-fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human Secretor blood group locus. J Biol Chem 270:4632–4639
3. Zhu FM, Xv XG, Hong XZ, Yan LX (2004) Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype. Chin J Med Genet 21(3):215–218
4. Song M, Zhao SM, Jiang TL, Lu H (2018) A very rare case with particular H-deficient phenotypes. Indian J Hematol Blood Transfus 34(4):788–791
5. Daniels G (2013) Human blood groups, 3rd edn. Wiley-Blackwell, Oxford, pp 43–47
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