| 1 | ALB, FDAH |
| A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. | |
| Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K. | |
| J Clin Endocrinol Metab 99(7):E1381-6. doi: 10.1210/jc.2013-4077. Epub 2014 Mar 19. Erratum in: J Clin Endocrinol Metab. 2015 Apr;100(4):1709. 2014 | |
| 2 | ALB, FDAH |
| A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. | |
| Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T. | |
| J Clin Endocrinol Metab 82(10):3246-50. 1997 | |
| 3 | ALB, FDAH |
| Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. | |
| Petersen CE, et al. | |
| J Biol Chem 271 : 19110-19117. 1996 | |
| 4 | FDAH |
| Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. | |
| Weiss RE, et al. | |
| J Clin Endocrinol Metab 80 : 116-121. 1995 | |
| 5 | ALB, FDAH |
| A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. | |
| Petersen CE, et al. | |
| J Med Genet 31 : 355-359. 1994 | |
| 6 | ALB, FDAH |
| Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. | |
| Lalloz MRA, et al. | |
| J Clin Endocrinol Metab 64 : 346-352. 1987 | |