Homozygous expression of a missense mutation at nucleotide 385 in the FUT2 gene associates with the Le(a+b+) partial-secretor phenotype in an Indonesian family

Biochemical and Biophysical Research Communications

Volumn 219, Issue 3, 1996, Pages 675-678

  Henry, Stephen ^b   Mollicone, Rosella ^a   Fernandez, Pilar ^a   Samuelsson, Bo ^b   Oriol, Rafael ^a   Larson, Göran ^b  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FUCOSYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD GROUP LEWIS SYSTEM; ENZYME STRUCTURE; GENE EXPRESSION; HOMOZYGOTE; HUMAN; INDONESIA; MISSENSE MUTATION; NORMAL HUMAN; PEDIGREE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0029963803     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1996.0293     Document Type: Article

References (18)

1. Henry, S. M., Oriol, R., and Samuelsson, B. E. (1995) Vox Sang. 69, 166-182.
2. Kukowska-Latallo, J. F., Larsen, R. D., Nair, R. P., and Lowe, J. B. (1990) Genes Dev. 4, 1288-1303.
3. Kelly, R. J., Rouquier, S., Giorgi, D., Lennon, G. G., and Lowe, J. B. (1995) J. Biol. Chem. 270, 4640-4649.
4. Henry, S., Mollicone, R., Lowe, J. B., Samuelsson, B., and Larson, G. (1996) Vox Sang. 70, 21-25.
5. Mourant, A. E, Kopec, A., and Domaniewska-Sobczak, K. (1976) The Distribution of Human Blood Groups and Other Polymorphisms, pp. 548-576. Oxford University Press, Oxford.
6. Henry, S. M., Simpson, L. A., and Woodfield, D. G. (1988) Hum. Hered. 38, 111-116.
7. Broadberry, R. E., and Lin-Chu, M. (1991) Hum. Hered. 41, 290-294.
8. Mollicone, R., Reguigne, I., Kelly, R. J., Fletcher, A., Watt, J., Chatfield, S., Aziz, A., Cameron, H. S., Weston, B. W., Lowe, J. B., and Oriol, R. (1994) J. Biol. Chem. 269, 20987-20994.
9. Boettcher, B., and Kenny, R. (1971). Hum. Hered. 21, 334-345.
10. Vos, G. H., and Comley, P. (1967) Acta genet. 17, 495-510.
11. Henry, S. M., Benny, A. G., and Woodfield, D. G. (1990) Vox Sang. 58, 61-66.
12. Mollicone, R., Reguigne, I., Fletcher, A., Aziz, A., Rustam, M., Weston, B. W., Kelly, R. J., Lowe, J. B., and Oriol, R. (1994) J. Biol. Chem. 269, 12662-12671.
13. Henry, S., Fernandez, P., Mollicone, R., Samuelsson, B., Oriol, R., and Larson, G. (1996) (abstract). 24th Congress of the International Society of Blood Transfusion, Japan.
14. Ugozolli, L., and Wallace, R. B. (1991) Methods: Companion to Methods in Enzymology. 2, 42-48.
15. Olerup, O., and Zetterquist, H. (1992) Tissue Antigens. 39, 225-235.
16. Henry, S. M., Oriol, R., and Samuelsson, B. E. (1994) Glycoconj. J. 11, 593-599.
17. Henry, S. M., Woodfield, D. G., Samuelsson, B. E., and Oriol, R. (1993) Vox Sang. 65, 62-69.
18. Henry, S. M., Samuelsson, B. E., and Oriol, R. (1994) Glycoconj. J. 11, 600-607.