Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hélène Igual"'
Autor:
Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, Michael Bismuth, Séverine Cunat, Hélène Igual, Jean François Schved
Publikováno v:
Haematologica, Vol 95, Iss 4 (2010)
Externí odkaz:
https://doaj.org/article/7b3eeda6983246f49e4e3b47d08bcbd7
Autor:
Hélène Igual, P. Martinez, Muriel Giansily Blaizot, Sébastien Trouillier, Guilaine Boursier, Jean-François Schved
Publikováno v:
Hemoglobin. 37(6)
Hemoglobin (Hb) variant β141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi [the other one being β144(HC1)Lys-Tyr-His→0 (HBB:c.433A>T)], was found as an isolated mutation. In contrast to what was suggested for Hb Kochi,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5767f85b07ed1ed20e1caee531d7d5de
https://pubmed.ncbi.nlm.nih.gov/23859762
https://pubmed.ncbi.nlm.nih.gov/23859762
Autor:
Philippe Jeanjean, Christine Biron-Andreani, Patricia Aguilar-Martinez, Jean-François Schved, Hélène Igual, Muriel Giansily-Blaizot
Publikováno v:
European journal of human genetics : EJHG. 9(2)
Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddf9f8687d80d34508c8c910480e7f3
https://pubmed.ncbi.nlm.nih.gov/11313743
https://pubmed.ncbi.nlm.nih.gov/11313743
Autor:
Patricia Aguilar-Martinez, Hélène Igual, Michael Bismuth, Muriel Giansily-Blaizot, Jean François Schved, Séverine Cunat
Publikováno v:
Haematologica. 95:687-688
In a recent paper, Island and colleagues[1][1] described a heterozygous hepcidin ( HAMP ) promoter mutation, nc.- 153C>T, which in association with HFE p.C282Y homozygosity appeared to lead to very severe iron overload (IO). They demonstrated in vitr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b28f4f52488a4d5a9dfabd0ed1641f73
https://doi.org/10.3324/haematol.2009.018028
https://doi.org/10.3324/haematol.2009.018028