Associated Papers
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.
Lam TT et al.
Hemoglobin, 2022
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).
Wang MC et al.
Hemoglobin, 2015
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R 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
Development of a high-resolution melting method for the detection of hemoglobin alpha variants.
Shih HC et al.
Clinical Biochemistry, 2010
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