TY  - JOUR 
AU  - Brage Varela, Antonio
AU  - Tomé Martínez de Rituerto, Santiago
AU  - García Martínez, María Aránzazu
AU  - Carracedo Álvarez, Ángel
AU  - Salas Ellacuriaga, Antonio
PY  - 2007
SN  - 1386-6346
UR  - http://hdl.handle.net/20.500.11940/23081
AB  - [EN] Wilson disease (WD) results when specific mutations occur at the ATP7B gene. The presence of mutations in the ATP7B gene was studied in the coding region and the intron-exon boundaries in 15 WD Spanish patients, and their first-degree relatives...
LA  - eng
KW  - Mutation
KW  - Spain
KW  - Hepatolenticular Degeneration
KW  - Copper Transport Proteins
KW  - Liver Diseases
TI  - Clinical and molecular characterization of Wilson disease in Spanish patients
DO  - 10.1111/j.1872-034X.2007.00010.x
T2  - Hepatology Research
M2  - 18
KW  - CHUAC
KW  - CHUS
VL  - 37
ER  -