Compound heterozygosity for Hb S [β6(A3)Glu→Val, GAG→GTG] and a new thalassemic mutation [β132(H10)Lys→term, AAA→TAA] detected in a family from West Africa

Hemoglobin

Volumn 32, Issue 3, 2008, Pages 309-313

  Frischknecht, Hannes ^a,d   Troxler, Heinz ^b   Greiner, Jeanette ^c   Hengartner, Heinz ^c   Dutly, Fabrizio ^a  

^a Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Children's Hospital of Eastern Switzerland   (Switzerland)

^d Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

Author keywords

Exon 3 0 mutation; Hb S thalassemia ( thal)

Indexed keywords

BETA GLOBIN; GLUTAMIC ACID; HEMOGLOBIN S; LYSINE; VALINE;

ADULT; ARTICLE; BETA THALASSEMIA; CODON; EXON; FEMALE; HETEROZYGOSITY; HUMAN; MALE; MUTATION;

AFRICA, WESTERN; BETA-THALASSEMIA; CODON; EXONS; FAMILY; FEMALE; HEMOGLOBIN, SICKLE; HETEROZYGOTE; HUMANS; MALE; MUTATION;

EID: 45849152655     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701758866     Document Type: Article

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