Search Results - "Cappabianca, MP"
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Reliability of DHPLC in mutational screening of β-globin (HBB) alleles
Published in Human mutation (01-03-2002)“…The inherited disorders of hemoglobin represent the most common Mendelian disease worldwide, with a higher prevalence among Mediterraneans, Asians, Africans,…”
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Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
Published in Haematologica (Roma) (01-09-2006)“…Clinical manifestations of beta-thalassemia (beta-thal) intermedia phenotypes are influenced by the persistence of fetal hemoglobin (HbF) and by several…”
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Cardiovascular involvement in thalassaemic patients with Pseudoxanthoma elasticum-like skin lesions: a long-term follow-up study
Published in European journal of clinical investigation (01-09-2002)“…Background Congenital haemolytic anaemia may be associated with pseudoxanthoma elasticum (PXE)‐like clinical manifestations. Methods The cardiovascular system…”
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Identification of G6PD Mediterranean mutation by amplification refractory mutation system
Published in Clinica chimica acta (01-07-2002)“…Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X chromosome-linked hereditary enzymopathy in humans. The authors have developed an…”
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Silent thalassemias: genotypes and phenotypes
Published in Haematologica (Roma) (01-05-1997)“…Associatione Nazionale per la lotta contro le Microcitemie in Italia, Rome, Italy. BACKGROUND AND OBJECTIVE: Current application of molecular biology…”
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Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication
Published in Haematologica (Roma) (01-09-1997)“…Associazione Nazionale per la Lotta contro le Microcitemie in Italia, Rome. BACKGROUND AND OBJECTIVE: beta thalassemia intermedia has its origins in compound…”
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HB Siirt [β27(β9)ALA→GLY]: A New, Electrophoretically Silent, Hemoglobin Variant
Published in Hemoglobin (01-01-1997)Get full text
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Prevention of Mediterranean anaemia in Latium, Italy, today
Published in Journal of medical genetics (01-01-1994)Get full text
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An assessment of the operating characteristics of Coulter Counter Model S-Plus STKR
Published in Haematologica (Roma) (01-03-1991)“…The operating performance of the Coulter Counter S Plus STKR was evaluated in two hospital laboratories in Rome and in Florence. Experimental design conformed…”
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Thin-layer isoelectric focusing of hemoglobin variants: screening and determination of isoelectric points
Published in Clinica chimica acta (15-11-1978)“…The high resolving power of thin-layer isoelectric focusing was applied for screening some hemoglobin variants classified on the basis of their electrophoretic…”
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