A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia

Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal G γ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mecha...

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Hauptverfasser: Crowley, Moira A., Mollan, Todd L., Abdulmalik, Osheisa Y., Butler, Andrew D., Goodwin, Emily F., Sarkar, Arindam, Stolle, Catherine A., Gow, Andrew J., Olson, John S., Weiss, Mitchell J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3632254/
https://ncbi.nlm.nih.gov/pubmed/21561349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1013579
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