TY  - JOUR 
AU  - Esperón Moldes, Uxía Saraiva
AU  - Pardo Seco, Jacobo José
AU  - Montalván-Suárez, M.
AU  - Fachal Vilar, Laura
AU  - Ginarte  Val, Manuel Javier
AU  - Rodríguez Pazos, Laura
AU  - Gómez Carballa, Alberto
AU  - Moscoso, F.
AU  - Ugalde-Noritz, N.
AU  - Ordoñez Ugalde, Andrés
AU  - Tettamanti-Miranda, D.
AU  - Ruiz, J. C.
AU  - Salas Ellacuriaga, Antonio
AU  - Vega Gliemmo, Ana
PY  - 2019
SN  - 2045-2322
UR  - http://hdl.handle.net/20.500.11940/15761
AB  - An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns...
LA  - eng
KW  - Humans
KW  - Transglutaminases
KW  - Ichthyosis
KW  - Haplotypes
KW  - Principal Component Analysis
KW  - Tandem Repeat Sequences
KW  - Genotype
TI  - Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
DO  - 10.1038/s41598-019-43133-6
T2  - Scientific Reports
KW  - FPGMX
KW  - CHUS
KW  - CHUVI
KW  - IDIS
VL  - 9
ER  -