A case of non-β-globin gene linked β thalassaemia in a Dutch family with two additional α-gene defects: The common -α3.7 deletion and the rare IVS1-116 (A → G) acceptor splice site mutation

British Journal of Haematology

Volumn 103, Issue 2, 1998, Pages 370-376

  Giordano, P C ^a,c   Harteveld, C L ^a   Haak, H L ^b   Batelaan, D ^a   Van Delft, P ^a   Plug, R J ^a   Emonts, M ^a   Zanardini, R ^a   Bernini, L F ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b LEYENBURG HOSPITAL   (Netherlands)

^c LEIDEN UNIVERSITY   (Netherlands)

Author keywords

thalassaemia; thalassaemia; EKLF; Globin chain biosynthesis; HS2

Indexed keywords

BETA GLOBIN; HEMOGLOBIN A2;

ADULT; ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; FAMILY STUDY; FEMALE; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; GLOBIN SYNTHESIS; HUMAN; HUMAN CELL; MALE; NETHERLANDS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ALPHA-THALASSEMIA; BETA-THALASSEMIA; FEMALE; GENE DELETION; GLOBINS; HAPLOTYPES; HUMANS; LOCUS CONTROL REGION; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0031724580     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00999.x     Document Type: Article

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