Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing

Autor: Licínio Manco, A. García-Orad, Teresa Fidalgo, Juan Carlos García-Ruiz, R. Del Orbe Barreto, Maria-Isabel Tejada, A. B. De la Hoz, Maria Leticia Ribeiro, Beatriz Arrizabalaga, Celeste Bento

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

SummaryIntroduction Congenital haemolytic anaemia (CHA) refers to a group of genetically heterogeneous disorders, mainly caused by changes in genes encoding globin chains, cytoskeletal proteins and red cell enzymes, in which accurate diagnosis can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf82c84c9abdc337b2624583cf77dcfe
https://doi.org/10.1111/ijlh.12551

PF507 THE HEPCIDIN-ERYTHROFERRONE AXIS AND ITS RELATIONSHIP WITH ERYTHROPOIESIS IN DIFFERENT TYPES OF ANEMIA

Autor: B. Arrizabalaga Amuchastegui, P. P. Salvador, M.J. María Jose, G. R. Sandra, R. A. M. Pilar, R. Del Orbe Barreto, M. G. Maite, V. M. Ana, M.C. María Isabel

Publikováno v: HemaSphere. 3:206-207

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c15682e1ed1d74244458a90e98a033d
https://doi.org/10.1097/01.hs9.0000560128.71690.e6

Hereditary xerocytosis, a misleading anemia

Autor: Celeste Bento, Beatriz Arrizabalaga, Ana Villegas, A. B. De la Hoz Rastrollo, I. Gonzalez Vallejo, R. Del Orbe Barreto, Juan Carlos García-Ruiz, A. García-Orad

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f62925bab111875fde47580ff4a0996
https://hdl.handle.net/10316/45856

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