| An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1. Dupradeau F.-Y., Pissard S., Coulhon M.-P., Cadet E., Foulon K., Fourcade C., Goossens M., Case D.A., Rochette J.
Hum. Mutat. 29:206-206(2008) · UniProtKB (1) |
| The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. Ka C., Le Gac G., Dupradeau F.-Y., Rochette J., Ferec C.
Hum. Genet. 117:467-475(2005) · UniProtKB (1) |
| Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. Le Gac G., Dupradeau F.-Y., Mura C., Jacolot S., Scotet V., Esnault G., Mercier A.-Y., Rochette J., Ferec C.
Blood Cells Mol. Dis. 30:231-237(2003) · UniProtKB (1) |
| A new B-chain mutant of insulin: comparison with the insulin crystal structure and role of sulfonate groups in the B-chain structure. Dupradeau F.Y., Richard T., Le Flem G., Oulyadi H., Prigent Y., Monti J.P.
J. Pept. Res. 60:56-64(2002) · Mapped (1) |
