A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype

Hemoglobin

Volumn 36, Issue 5, 2012, Pages 433-445

  Giannopoulou, Emily ^a   Bartsakoulia, Marina ^a   Tafrali, Christina ^a   Kourakli, Alexandra ^b   Poulas, Konstantinos ^a   Stavrou, Eleana F ^b   Papachatzopoulou, Adamantia ^b   Georgitsi, Marianthi ^a   Patrinos, George P ^a  

^a UNIVERSITY OF PATRAS   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

Author keywords

Thalassemia ( thal); Thalassemia intermedia ( TI); Thalassemia major ( TM); HBBP1 Gene; Hydroxyurea (HU); Pharmacogenomics; Polymorphism

Indexed keywords

BETA GLOBIN; BIOLOGICAL MARKER; HBBP1 PROTEIN; HYDROXYUREA; UNCLASSIFIED DRUG;

ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFICACY; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; THALASSEMIA INTERMEDIA; THALASSEMIA MAJOR;

ALLELES; BETA-GLOBINS; BETA-THALASSEMIA; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENETIC LOCI; GENOTYPE; HUMANS; HYDROXYUREA; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 84866600643     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2012.717515     Document Type: Article

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