Human α2-globin nonsense-mediated mRNA decay induced by a novel α-thalassaemia frameshift mutation at codon 22

British Journal of Haematology

Volumn 133, Issue 1, 2006, Pages 98-102

  Pereira, Francisco J C ^a   Silva, Maria Do Céu ^a   Picanço, Isabel ^a   Seixas, Maria T ^a   Ferrão, Anabela ^b   Faustino, Paula ^a   Romão, Luísa ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

thalassaemia; Frameshift mutation; Globin genes; Nonsense codon; Nonsense mediated mRNA decay

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN ALPHA2; MESSENGER RNA; UNCLASSIFIED DRUG; GLOBIN;

ALPHA THALASSEMIA; ARTICLE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GLOBIN GENE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HUMAN; HUMAN CELL; IRON DEFICIENCY ANEMIA; MICROCYTIC ANEMIA; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA DEGRADATION; RNA SPLICING; RNA TRANSLATION; STOP CODON; BLOOD; GENE VECTOR; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HELA CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA STABILITY;

ALPHA-THALASSEMIA; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC VECTORS; GENOTYPE; GLOBINS; HELA CELLS; HUMANS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA STABILITY; RNA, MESSENGER; TRANSFECTION;

EID: 33644640892     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2006.05971.x     Document Type: Article

References (12)

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