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Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.
Frischknecht, Hannes; Troxler, Heinz; Greiner, Jeanette; Hengartner, Heinz; Dutly, Fabrizio.
Affiliation
  • Frischknecht H; Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland.
Hemoglobin ; 32(3): 309-13, 2008.
Article in En | MEDLINE | ID: mdl-18473248
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon / Hemoglobin, Sickle / Exons / Beta-Thalassemia / Heterozygote / Mutation Limits: Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Hemoglobin Year: 2008 Document type: Article Affiliation country: Switzerland Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon / Hemoglobin, Sickle / Exons / Beta-Thalassemia / Heterozygote / Mutation Limits: Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Hemoglobin Year: 2008 Document type: Article Affiliation country: Switzerland Country of publication: United kingdom