Search Results - "Lagona, Laura"
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α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro
Published in PloS one (02-03-2015)“…We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or…”
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Journal Article -
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HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene in cis to the β⁺ thal IVS-I-110 G>A, and the heterogeneity of δ-globin alleles in double heterozygotes for β- and δ-globin gene defects
Published in Annals of hematology (01-02-2010)“…The study of the alleles of the δ-globin gene is relevant to the prevention of β-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable…”
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Journal Article -
3
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes
Published in Hemoglobin (2010)“…The increase of Hb A(2) (α2δ2) beyond the upper limit [2.0-2.2/3.3-3.4% of the total hemoglobin (Hb)] is an invaluable tool in the hematological screening of…”
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Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area
Published in Gene (29-02-2008)“…The human δ-globin gene (HBD) is one of the β-like globin genes expressed in adults. In the Mediterranean countries the carriers of δ-thalassemia defects or Hb…”
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Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or [alpha]1 Cod 108(G15)Thr[right arrow]Asn and Hb Policoro or [alpha]2 Cod 124(H7)Ser[right arrow]Pro
Published in PloS one (02-03-2015)“…We identified two new variants in the third exon of the [alpha]-globin gene in families from southern Italy: the Hb Rogliano, [alpha]1 cod108 ACC>AAC or…”
Get full text
Journal Article -
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Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or [alpha]1 Cod 108Ser[right arrow]Pro
Published in PloS one (02-03-2015)“…We identified two new variants in the third exon of the [alpha]-globin gene in families from southern Italy: the Hb Rogliano, [alpha]1 cod108 ACC>AAC or…”
Get full text
Journal Article -
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Genotype-Phenotype Relationship of the δ-Thalassemia and Hb A 2 Variants: Observation of 52 Genotypes
Published in Hemoglobin (01-10-2010)Get full text
Journal Article -
8
HbA2-Partinico or [delta](A2)Pro[arrow right]Thr, a new genetic variation in the [delta]-globin gene in cis to the [beta]+ thal IVS-I-110 G>A, and the heterogeneity of [delta]-globin alleles in double heterozygotes for [beta]- and [delta]-globin gene defects
Published in Annals of hematology (01-02-2010)“…The study of the alleles of the δ-globin gene is relevant to the prevention of β-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable…”
Get full text
Journal Article -
9
HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene to the β thal IVS-I-110 G>A, and the heterogeneity of δ-globin alleles in double heterozygotes for β- and δ-globin gene defects
Published in Annals of hematology (17-07-2009)“…The study of the alleles of the δ-globin gene is relevant to the prevention of β-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable…”
Get full text
Journal Article -
10
Genotype-Phenotype Relationship of the δ-Thalassemia and Hb A2 Variants: Observation of 52 Genotypes
Published in Hemoglobin (01-10-2010)“…The increase of Hb A2 (α2δ2) beyond the upper limit [2.0-2.2 3.3-3.4% of the total hemoglobin (Hb)] is an invaluable tool in the hematological screening of…”
Get full text
Journal Article