Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy

Beta-thalassemia, the most common hereditary anemia in the Mediterranean area, results from over 200 causative mutations in the beta-globin locus. The aim of this study was to validate a denaturing high-performance liquid chromatography (dHPLC)-based assay for postnatal and prenatal molecular diagno...

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Veröffentlicht in:	Genetic testing 2003-09, Vol.7 (3), p.269-275
Hauptverfasser:	Colosimo, Alessia, Guida, Valentina, Scolari, Anna, De Luca, Alessandro, Palka, Giandomenico, Rigoli, Luciana, Meo, Anna, Salpietro, Damiano Carmelo, Dallapiccola, Bruno
Format:	Artikel
Sprache:	eng
Schlagworte:	beta-Thalassemia - diagnosis beta-Thalassemia - genetics Chorionic Villi Sampling Chromatography, High Pressure Liquid - methods Female Fetal Diseases - diagnosis Fetal Diseases - genetics Globins - genetics Humans Italy Male Mutation Pregnancy Prenatal Diagnosis - methods Single-Blind Method
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