Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sandra Gandia-Pla"'
Autor:
Jose Antonio Gómez-Capilla, Sandra Gandia-Pla, Mª Esther Fárez-Vidal, Carolina Gomez-Llorente, Sonia Blanco
Publikováno v:
Clinica Chimica Acta. 395:94-98
Background Glucose-6-phosphate dehydrogenase (G6PD) is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defence against oxidizing agents and in reductive biosynthetic reac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd172a901da9b85ea8486d2f94b3e0e5
https://doi.org/10.1016/j.cca.2008.05.014
https://doi.org/10.1016/j.cca.2008.05.014
Autor:
Antonio Suárez, M. Esther Fárez-Vidal, Sandra Gandia-Pla, Adelaida Antúnez, Sonia Blanco, Jose Antonio Gómez-Capilla, Carolina Gomez-Llorente
Publikováno v:
Scandinavian journal of clinical and laboratory investigation. 68(7)
Huntington disease (HD) is a neurodegenerative disorder associated with the expansion of a polymorphic trinucleotide CAG repeat in the HD gene. We have developed an assay to accurately determine CAG repeats that combines a novel oligonucleotide desig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5abc1716b9d165c4ac1cc085b72cabaa
https://pubmed.ncbi.nlm.nih.gov/19378429
https://pubmed.ncbi.nlm.nih.gov/19378429
Autor:
Jose Antonio Gómez-Capilla, Carolina Gomez-Llorente, M. Teresa Miranda-León, Sonia Blanco, M. Esther Fárez-Vidal, Sandra Gandia-Pla
Publikováno v:
Annals of hematology. 84(10)
Three HFE gene mutations (HFE 845 G--A, 187 C--G and 193 A--T) are the most common mutations related to hereditary haemochromatosis (HH). The genotype for these mutations was analysed in 359 Spanish individuals with altered iron metabolism and iron o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a6a064c78db6b39d0dd81a4baed057
https://pubmed.ncbi.nlm.nih.gov/15986199
https://pubmed.ncbi.nlm.nih.gov/15986199