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Autor:
Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Batalha Reis, Ana, Valtonen-André, Camila, Sonesson, Annika, Pina, Francisca, Maia, Raquel, Kjollerstrom, Paula, Monteiro, Estela, F. Lacerda, João, Lavinha, João, Gonçalves, João, Faustino, Paula
European Society of Human Genetics, 27-30 May 2017 Introduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the most common genetic recessive disorders worl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::3f9b3015debf22cd687d7a8a562b3b58
https://hdl.handle.net/10400.18/4842
https://hdl.handle.net/10400.18/4842
Autor:
Sonesson, Annika1 (AUTHOR) annika.sonesson@med.lu.se, Hillarp, Andreas1 (AUTHOR), Giwercman, Aleksander2 (AUTHOR), Malm, Johan1 (AUTHOR)
Publikováno v:
Scandinavian Journal of Clinical & Laboratory Investigation. Nov2011, Vol. 71 Issue 7, p569-575. 7p.
Autor:
Malm, Johan1 johan.malm@med.lu.se, Sonesson, Annika1, Hellman, Jukka2, Bjartell, Anders3, Frohm, Birgitta1, Hillarp, Andreas1
Publikováno v:
International Journal of Andrology. Oct2008, Vol. 31 Issue 5, p508-517. 10p. 2 Color Photographs, 2 Black and White Photographs, 1 Graph.
Autor:
Coelho, Andreia, Fernandes, Emília, Batalha-Reis, Ana, Sonesson, Annika, Picanço, Isabel, Miranda, Armandina, Faustino, Paula
The major component of the red blood cells is hemoglobin A which consists of 2α- and 2β-globin chains encoded by α- and β-globin genes located in two different gene clusters (16p13.3 and 11p.15.5, respectively). Molecular defects (usually point m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::c3eefca91fd7f0de8e0b8785633f97f7
https://hdl.handle.net/10400.18/318
https://hdl.handle.net/10400.18/318