Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation

Annals of Hematology

Volumn 77, Issue 6, 1998, Pages 249-255

  Giordano, P C ^a   Harteveld, C L ^a   Michiels, J J ^b   Terpstra, W ^b   Schelfhout, L J D M ^c   Appel, I M ^d   Batelaan, D ^a   Van Delft, P ^a   Plug, R J ^a   Bernini, L F ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Dominant hemolysis; Hemoglobin; Thalassemia; Ubiquitin proteolytic pathway

Indexed keywords

BETA GLOBIN; HEMOGLOBIN F;

ADULT; ANEMIA; ARTICLE; BETA THALASSEMIA; CELL INCLUSION; CLINICAL ARTICLE; CLINICAL FEATURE; DOMINANT INHERITANCE; ERYTHROBLASTOSIS; FEMALE; GLOBIN GENE; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; MALE; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

ADULT; BETA-THALASSEMIA; FEMALE; GENE AMPLIFICATION; GENES, DOMINANT; GLOBINS; GUANOSINE; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; PEDIGREE; PHENOTYPE; POINT MUTATION; THYMIDINE;

EID: 0032406029     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002770050453     Document Type: Article

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