TY  - JOUR 
AU  - Fachal Vilar, Laura
AU  - Toribio Pérez, Jaime
AU  - Vega Gliemmo, Ana
AU  - Ginarte Val, Manuel Javier
AU  - Carracedo Álvarez, Ángel
AU  - Rodríguez Pazos, Laura
PY  - 2014
SN  - 0007-0963
UR  - http://hdl.handle.net/20.500.11940/4583
LA  - eng
TI  - Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis
DO  - 10.1111/bjd.12757
T2  - BRITISH JOURNAL OF DERMATOLOGY
M2  - 980
VL  - 170
ER  -