3 documents found, page 1 of 1
Widening the spectrum of deletions and molecular mechanisms underlying alpha-th...
Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Reis, Ana BatalhaInherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, Multiplex Ligation-dependent Probe Amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the subtelomeric region of the short arm of chromosome 16...
Widening the spectrum of deletions and molecular mechanisms underlying alpha-th...
Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Reis, Ana BatalhaInherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, multiplex ligation-dependent probe amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the sub-telomeric region of the short arm of chromosome 1...
Evaluación del nuevo Contador Hematológico Unicel ® DXH 800 – Beckman Coulter e...
Reis, Ana Batalha; Matos, Susana; Meireles, Flora; Pinto, Tânia; Limão, Luísa; Silva, Patrícia; Antunes, Cláudia; Amaro, Sílvia; Simões, Catarina