A phased SNP-based classification of sickle cell anemia HBB haplotypes

BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful...

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Vydáno v:BMC Genomics
Hlavní autoři: Shaikho, Elmutaz M., Farrell, John J., Alsultan, Abdulrahman, Qutub, Hatem, Al-Ali, Amein K., Figueiredo, Maria Stella, Chui, David H.K., Farrer, Lindsay A., Murphy, George J., Mostoslavsky, Gustavo, Sebastiani, Paola, Steinberg, Martin H.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
Methodology Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5553663/
https://ncbi.nlm.nih.gov/pubmed/28800727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-017-4013-y
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