Seventy-five unrelated hemophilia A patients from India were analyzed for factor VIII gene defects. Intron 22 inversion was identified in 22 patients and intron 1 inversion in 2 patients. In the remaining 51 patients without inversions screening the FVIII gene by denaturing high performance liquid chromatography (DHPLC) revealed 42 different mutations in 44 unrelated subjects. These included 14 missense, 7 nonsense, 9 spice site, S deletional, 3 insertional mutations and one indel mutation. Of these, 32 were novel gene alterations. The hotspots included intron 22 inversion, CpG and adenine runs.
Correlation of genomic aberrations with the mutational status of immunoglobulin heavy-chain variable region, ZAP-70 and CD38 expression in chronic lymphocytic leukemia / F. Morabito, S. Fabris, G. Cutrona, S. Matis, C. Sleitano, M. Brugiatelli, C. Mammi, M. Spriano, E. Rossi , V. Callea, S. Zupo, M. Ferrarini, A. Neri. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 90:supplement no.3(2005 Jul), pp. 283-283. ((Intervento presentato al 40. convegno Congress of the Italian Society of Hematology tenutosi a Bergamo nel 2005.
Correlation of genomic aberrations with the mutational status of immunoglobulin heavy-chain variable region, ZAP-70 and CD38 expression in chronic lymphocytic leukemia
S. FabrisSecondo
;A. NeriUltimo
2005
Abstract
Seventy-five unrelated hemophilia A patients from India were analyzed for factor VIII gene defects. Intron 22 inversion was identified in 22 patients and intron 1 inversion in 2 patients. In the remaining 51 patients without inversions screening the FVIII gene by denaturing high performance liquid chromatography (DHPLC) revealed 42 different mutations in 44 unrelated subjects. These included 14 missense, 7 nonsense, 9 spice site, S deletional, 3 insertional mutations and one indel mutation. Of these, 32 were novel gene alterations. The hotspots included intron 22 inversion, CpG and adenine runs.Pubblicazioni consigliate
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