Associated Papers
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
[A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis].
Lv J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.
Renoux C et al.
Hemoglobin, 2015
Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.
Carter TE et al.
The American Journal of Tropical Medicine and Hygiene, 2014
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