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Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

Individual variation in fetal hemoglobin (HbF, α(2)γ(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and β thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quanti...

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Autores principales: Thein, Swee Lay, Menzel, Stephan, Peng, Xu, Best, Steve, Jiang, Jie, Close, James, Silver, Nicholas, Gerovasilli, Ageliki, Ping, Chen, Yamaguchi, Masao, Wahlberg, Karin, Ulug, Pinar, Spector, Tim D., Garner, Chad, Matsuda, Fumihiko, Farrall, Martin, Lathrop, Mark
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2040901/
https://ncbi.nlm.nih.gov/pubmed/17592125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0611393104
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