Article
Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia.
European journal of haematology - 1 Mar 2013
Lacerra Giuseppina, Prezioso Romeo, Musollino Gennaro, Piluso Giulio, Mastrullo Lucia, De Angioletti Maria
Abstract excerpt
OBJECTIVES: To characterize the molecular basis of a β-thalassemia defect in subjects with mild microcytosis associated with normal Hb A2 and increased levels of Hb F. METHODS: Six subjects from three apparently unrelated families from Campania (southern Italy) have been investigated using DNA restriction analysis, inverse PCR, cloning, sequencing, multiplex ligation-dependent probe amplification (MLPA),...
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