Genetic diseases of hemoglobin: diagnostic methods for elucidating β -thalassemia mutations (original) (raw)
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]
Barry Eng
Blood, 1992
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Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics: OCCURRENCE OF COMMON AND RARE δ-GLOBIN GENE DEFECTS
Piero Giordano
Int J Lab Hematol, 2010
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Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics
Piero Giordano
International Journal of Laboratory Hematology, 2011
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Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2
Suthat Fucharoen
Hemoglobin, 2019
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Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain
Karen Scheps
European journal of haematology, 2018
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α-thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2-globin gene
Wytze Oosterhuis
European Journal of Haematology, 2010
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A single nucleotide deletion in codon 123 of the β-globin gene causes an inclusion body β-thalassaemia trait: a novel elongated globin chain β Makabe
Supan Fucharoen
British Journal of Haematology, 1990
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β-Globin chain abnormalities with coexisting α-thalassemia mutations
Ferda Tekinturhan
β-Globin chain abnormalities with coexisting α-thalassemia mutations, 2012
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Identification of patients with defects in the globin genes
Eleonora Mazzone
Journal of Prenatal Medicine, 2013
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Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene
Piero Giordano
Journal of Medical Genetics, 1991
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A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype
S. Agosti
Blood, 1990
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Identification of patients with defects in the globin genes by analysing blood parameters and genetic study: Report of five cases
Manuela Leo, Maria Giovanna Lupo
Journal of Hematological Malignancies, 2013
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Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals
Maria De Fátima Sonati, Daniela Ribeiro
Revista Brasileira de Hematologia e Hemoterapia, 2015
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The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions
Saul Surrey
Cell, 1984
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Hemoglobin pasadena: Identification of the gene mutant by DNA analysis using synthetic DNA probes
yayesh asmerom
American Journal of Hematology, 1988
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Molecular characterization of β-globin gene mutations in patients with β-thalassaemia intermedia in South China
Stylianos Antonarakis
British Journal of Haematology, 1988
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Identification of patients with defects in the globin genes by
D. Dell'Edera
2014
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Novel and Unusual Deletion-Insertion Thalassemic Mutation in Exon 1 of the Beta-Globin Gene
Jacques Elion
Human Mutation, 1996
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Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene
antonino giambona
Thalassemia Reports, 2012
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Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene
Barry Eng
Blood, 1992
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A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene
Ahmad Ahmadzadeh
Archives of Iranian Medicine, 2014
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Molecular characterization of β-globin gene mutations in Malay patients with Hb E-β-thalassaemia and thalassaemia major
edwin putra
1989
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A Novel Alpha-thalassemia Nonsense Mutation in HBA2:C.382 A > T globin GeneMoham
Mohammad Ali Hamid
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Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene
Alihossein Saberi
Archives of Iranian Medicine
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Two novel mutations in the 3′ untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia
Zeynep Şeyma Öztürk
International Journal of Laboratory Hematology, 2013
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Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family
mohammad Taghi Akbari
Annals of Hematology, 2010
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Two Novel and Five Rare Mutations in the Non Coding Regions of the β-Globin Gene in the Iranian Population
Mohammad Hamid
Hemoglobin, 2020
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Identification of a Novel Mutation in the β-Globin Gene 3'Untranslated Region [+ 1,506 (A> C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype
mohammed kashif naveed
…, 2012
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First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations
Salam Alkindi
International Journal of Laboratory Hematology, 2014
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α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh
Tamanna Kabir
Hemoglobin
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A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype
Russel Kaufman
Blood, 1994
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Mutational spectrum of delta-globin gene in the Portuguese population
Susana Gomes
European Journal of Haematology, 2007
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