Molecular and cellular characterization of a new α-Thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon

Hemoglobin

Volumn 36, Issue 3, 2012, Pages 244-252

  Qadah, Talal ^a,b,c   Finlayson, Jill ^a,b   Newbound, Christopher ^a   Pell, Nicole ^a   Pascoe, Michelle ^a   Greenwood, Laura ^a   Holmes, Paula ^a   Grey, Dianne ^a   Beilby, John ^a,b   Ghassemifar, Reza ^a,b,d  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

Thalassemia ( thal); 2 Globin; Aberrant splice variant; Cryptic splice site; Nonsense mediated decay (NMD); Point mutation; Premature termination codon (PTC)

Indexed keywords

ADENOSINE; ALPHA GLOBIN; CYTOSINE; HEMOGLOBIN A2; MESSENGER RNA; NUCLEOTIDE;

ABERRANT CRYPT FOCUS; ADULT; ALPHA THALASSEMIA; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; COMPUTER MODEL; ETHNICITY; EXON; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MALE; MICROCYTOSIS; MOLECULAR BIOLOGY; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; POINT MUTATION; STOP CODON;

ADULT; ALPHA-GLOBINS; ALPHA-THALASSEMIA; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; HEMOGLOBIN A2; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; POINT MUTATION; RNA SPLICE SITES; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 84860716891     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2012.670683     Document Type: Article

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