Two new δ-globin mutations: Hb A2-ninive [δ133(H11)Val→Ala] and a δ+-thalassemia mutation [-31 (A → G)] in the tata box of the δ-globin gene

Hemoglobin

Volumn 29, Issue 2, 2005, Pages 151-154

  Frischknecht, Hannes ^a   Dutly, Fabrizio ^a  

^a Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

Author keywords

+ Thalassemia (thal); Carrier screening; Hb A2 variant

Indexed keywords

ALANINE; DELTA GLOBIN; HEMOGLOBIN; VALINE;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD; CODON; ELECTROPHORESIS; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; ION EXCHANGE CHROMATOGRAPHY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; THALASSEMIA;

ADULT; BETA-THALASSEMIA; CHILD, PRESCHOOL; CHROMATOGRAPHY, ION EXCHANGE; DNA MUTATIONAL ANALYSIS; FEMALE; GLOBINS; HEMOGLOBIN A; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE DETECTION; HUMANS; IRAQ; ITALY; POINT MUTATION; TATA BOX; VARIATION (GENETICS);

EID: 18844436751     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200058593     Document Type: Article

References (7)

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