α-Thalassaemia as a result of a novel splice donor site mutation of the α1-globin gene

British Journal of Haematology

Volumn 110, Issue 3, 2000, Pages 694-698

  Harteveld, C L ^a   Beijer, C ^b   Van Delft, P ^a   Zanardini, R ^a   Bernini, L F ^a   Giordano, P C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RIJNLAND HOSPITAL   (Netherlands)

Author keywords

globin gene; thalassaemia; Haemoglobinopathy; HbH disease; Splice donor site mutation

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN H; MESSENGER RNA;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; CASE REPORT; CHILD; EXON; FEMALE; GENE MUTATION; HEMOGLOBINOPATHY; HUMAN; INTRON; MALE; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SEQUENCE; RNA SPLICING; SCHOOL CHILD;

ADULT; ALPHA-THALASSEMIA; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; ELECTROPHORESIS, AGAR GEL; FEMALE; GLOBINS; HUMANS; MALE; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0033777116     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02225.x     Document Type: Article

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