| Genome-wide association study for Crohn's disease in the Quebec founder population identifies multiple validated disease loci. Raelson J.V., Little R.D., Ruether A., Fournier H., Paquin B., Van Eerdewegh P., Bradley W.E.C., Croteau P., Nguyen-Huu Q., Segal J. et al.
Proc. Natl. Acad. Sci. U.S.A. 104:14747-14752(2007) · UniProtKB (1) · Mapped (34) |
| A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. Usala S.J., Menke J.B., Watson T.L., Berard J., Bradley W.E.C., Bale A.E., Lash R.W., Weintraub B.D.
J. Clin. Endocrinol. Metab. 72:32-38(1991) · UniProtKB (1) |
| A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Usala S.J., Menke J.B., Watson T.L., Wondisford F.E., Weintraub B.D., Berard J., Bradley W.E.C., Ono S., Mueller O.T., Bercu B.B.
Mol. Endocrinol. 5:327-335(1991) · UniProtKB (1) |
| An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity. Cugini C.D. Jr., Leidy J.W. Jr., Chertow B.S., Berard J., Bradley W.E.C., Menke J.B., Hao E.-H., Usala S.J.
J. Clin. Endocrinol. Metab. 74:1164-1170(1992) · UniProtKB (1) |
