Associated Papers
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
Riou J et al.
International Journal of Laboratory Hematology, 2015
Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.
Joly P et al.
Hemoglobin, 2014
HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations.
Haynes CA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.
Moradkhani K et al.
Hemoglobin, 2007
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