High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a …
M González‐Del Carmen, S Montaño… - International Journal …, 2020 - Wiley Online Library
Background Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders
produced by mutations in essential genes for the skin function. A low prevalence of this …
produced by mutations in essential genes for the skin function. A low prevalence of this …
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
US Esperón-Moldes, J Pardo-Seco… - Scientific Reports, 2019 - nature.com
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c. 1187G> A, has
been observed in the Ecuadorian province of Manabí. Recently, the same mutation has …
been observed in the Ecuadorian province of Manabí. Recently, the same mutation has …
[HTML][HTML] Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis
2. Methods A family from Rawalpindi district of Pakistan was ascertained to have been
affected with LI (Fig. S2). All the participating individuals (IV: 1, IV: 2, IV: 3, IV: 4, IV: 7, IV: 8 …
affected with LI (Fig. S2). All the participating individuals (IV: 1, IV: 2, IV: 3, IV: 4, IV: 7, IV: 8 …
[PDF][PDF] Biogeographical origin and timing of the founder ichthyosis TGM1 c. 1187G> A mutation in an isolated ecuadorian population
L Rodríguez-pazos, A Gómez-Carballa, F Moscoso… - runa.sergas.es
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c. 1187G> A, has
been observed in the Ecuadorian province of Manabí. Recently, the same mutation has …
been observed in the Ecuadorian province of Manabí. Recently, the same mutation has …