Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia

Stroke is a devastating complication of sickle cell anemia (SCA), occurring in 11% of patients before age 20 years. Previous studies of sibling pairs have demonstrated a genetic component to the development of cerebrovascular disease in SCA, but few candidate genetic modifiers have been validated as...

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Hlavní autoři: Flanagan, Jonathan M., Sheehan, Vivien, Linder, Heidi, Howard, Thad A., Wang, Yong-Dong, Hoppe, Carolyn C., Aygun, Banu, Adams, Robert J., Neale, Geoffrey A., Ware, Russell E.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2013
Témata:
Red Cells, Iron, and Erythropoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3630835/
https://ncbi.nlm.nih.gov/pubmed/23422753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-10-464156
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