Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.

Frischknecht, Hannes; Dutly, Fabrizio

Frischknecht, Hannes; Dutly, Fabrizio.

Affiliation

Frischknecht H; IMD Institute for Medical and Molecular Diagnostics Ltd., Zurich, Switzerland. hannes@imdlab.ch

Hemoglobin ; 29(2): 151-4, 2005.

Article in En | MEDLINE | ID: mdl-15921167

Subject(s)

Genetic Variation/genetics; Globins/genetics; Hemoglobin A/genetics; Point Mutation/genetics; TATA Box/genetics; beta-Thalassemia/genetics; Adult; Child, Preschool; Chromatography, Ion Exchange/methods; DNA Mutational Analysis/methods; Female; Genetic Carrier Screening; Globins/analysis; Hemoglobins, Abnormal/genetics; Humans; Iraq; Italy

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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Globins / Hemoglobin A / TATA Box / Point Mutation / Beta-Thalassemia Limits: Adult / Child, preschool / Female / Humans Country/Region as subject: Asia / Europa Language: En Journal: Hemoglobin Year: 2005 Document type: Article Affiliation country: Switzerland Country of publication: United kingdom

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