| 1 | BSI, TGM1 |
| Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. | |
| Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. | |
| J Med Genet 46(2):103-11. Epub 2008 Oct 23. 2009 | |
| 2 | BSI, TGM1 |
| Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. | |
| Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, Küster W, Hovnanian A, Hennies HC, Traupe H. | |
| Hum Mol Genet 15(21):3083-97. Epub 2006 Sep 12. 2006 | |