Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gumersindo Fontán-Casariego"'
Publikováno v:
Anales de Pediatría Continuada. 4:111-114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e9bbd62664c36984812c04957dc2f02
https://doi.org/10.1016/s1696-2818(06)73597-1
https://doi.org/10.1016/s1696-2818(06)73597-1
Publikováno v:
Anales de Pediatría Continuada. 4:41-45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e98ae45051d69d891bd0fbbcdb00968a
https://doi.org/10.1016/s1696-2818(06)73586-7
https://doi.org/10.1016/s1696-2818(06)73586-7
Autor:
María Cruz Rodríguez, Rebeca Pérez de Diego, Gumersindo Fontán Casariego, Antonio Ferreira Cerdán, Eduardo López-Granados
Publikováno v:
The Journal of allergy and clinical immunology. 116(3)
Background X-linked (Bruton's) agammaglobulinemia (XLA) is a rare immunodeficiency caused by a block in B-cell development caused by mutations in the Bruton's tyrosine kinase (BTK) gene. Many aspects of XLA and BTK function remain unresolved; atypica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f2954c421020110f10cd720ce8a8af
https://pubmed.ncbi.nlm.nih.gov/16159644
https://pubmed.ncbi.nlm.nih.gov/16159644
Autor:
Gumersindo Fontán Casariego, Antonio Ferreira Cerdán, Eduardo López Granados, M. Cruz Garcia Rodriguez, Rebeca Pérez de Diego
Publikováno v:
Journal of Allergy and Clinical Immunology. 115:205-206
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb4060ca2b1ba9feb8aac7117355f84
https://doi.org/10.1016/j.jaci.2004.07.059
https://doi.org/10.1016/j.jaci.2004.07.059
Autor:
Ma Cruz García Rodríguez, Antonio Ferreira Cerdán, Gumersindo Fontán Casariego, Eduardo López Granados
Publikováno v:
Human Mutation. 18:84-84
Mutations in Bruton’s tyrosine kinase (BTK) gene result in X linked agammaglobulinemia (XLA). Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing 21 mutations were found in 27 patients with an XLA phenotype from 21 un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::806cd1c55e4038110410ace3df767453
https://doi.org/10.1002/humu.1155
https://doi.org/10.1002/humu.1155