First report of a nonsense mutation at codon 15(TGG → TAG) in exon 1 of the β globin gene in a β thalassemia trait in State of Orissa, India

Hematology

Volumn 13, Issue 1, 2008, Pages 65-67

  Nishank, Sudhansu Sekhar ^a   Ranjit, Manoranjan ^a   Chhotray, Guru Prasad ^a  

^a REGIONAL MEDICAL RESEARCH CENTRE ICMR   (India)

Author keywords

Thalassemia; Jaundice; Mutation; Splenomegaly

Indexed keywords

ADENINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BETA GLOBIN; CYTOSINE; FERRITIN; GENOMIC DNA; GUANINE; HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN S; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IRON; LACTATE DEHYDROGENASE; THYMINE; GLOBIN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BETA THALASSEMIA; BLOOD ANALYSIS; BLOOD TRANSFUSION; CASE REPORT; CLINICAL FEATURE; CODON; DNA DETERMINATION; ERYTHROCYTE COUNT; EXON; FEMALE; FERRITIN BLOOD LEVEL; GENETIC REGULATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HUMAN; INDIA; IRON BLOOD LEVEL; JAUNDICE; LEUKOCYTE COUNT; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; NONSENSE MUTATION; PALLOR; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; REFRACTORY ANEMIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; GENETICS; HEMOLYSIS; HETEROZYGOTE; MALE; PEDIGREE; STOP CODON;

BETA-THALASSEMIA; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GLOBINS; HEMOLYSIS; HETEROZYGOTE; HUMANS; INDIA; MALE; PEDIGREE;

EID: 48449097141     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1179/102453308X315852     Document Type: Article

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