TY  - JOUR 
AU  - Fachal Vilar, Laura
AU  - Rodríguez Pazos, Laura
AU  - Ginarte  Val, Manuel Javier
AU  - Toribio Pérez, Jaime
AU  - Salas Ellacuriaga, Antonio
AU  - Vega Gliemmo, Ana
PY  - 2012
SN  - 1932-6203
UR  - http://hdl.handle.net/20.500.11940/4880
AB  - Background: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223_1227delACAC and c.984+1G>A, were observed at...
LA  - eng
KW  - Founder Effect
KW  - Genes, Recessive
KW  - Haplotypes
KW  - Ichthyosis
TI  - Multiple Local and Recent Founder Effects of TGM1 in Spanish Families
T2  - PLoS One
M2  - e33580
VL  - 7
ER  -