Associated Papers
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.
Zhang Q et al.
Frontiers in Immunology, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation.
Li S et al.
Annals of Hematology, 2022
Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.
Anurogo D et al.
International Journal of Molecular Sciences, 2021
[Hb Alesha of unstable hemoglobinopathy: a case report and literature review].
Zhang Q et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Rizzuto V et al.
Frontiers in Physiology, 2021
Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia.
Haiyambo DH et al.
Transactions of the Royal Society of Tropical Medicine and Hygiene, 2019
Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
Su Q et al.
Hemoglobin, 2019
Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.
Pedroso GA et al.
Hemoglobin, 2017
Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G > A] Found in a Chinese Girl.
Jiang H et al.
Hemoglobin, 2016
Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.
Pirastru M et al.
Hemoglobin, 2016
G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea.
Lin M et al.
Plos One, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Two polymorphisms of USF1 gene (-202G>A and -844C>T) may be associated with hepatocellular carcinoma susceptibility based on a case-control study in Chinese Han population.
Zhou X et al.
Medical Oncology (northwood, London, England), 2014
High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).
Millimono TS et al.
Hemoglobin, 2012
Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method.
Enevold A et al.
Malaria Journal, 2005
Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)].
Patterson M et al.
Hemoglobin, 2003