Citations for
1BSI, 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
2BSI, 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, K├╝ster W, Hovnanian A, Hennies HC, Traupe H.
Hum Mol Genet 15(21):3083-97. Epub 2006 Sep 12. 2006