Search Results - "TUBIELLO, G"

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis by BARBIERI, A. M, SORIANI, N, TUBIELLO, G. M, FERRARI, M, CARRERA, P

“…Heteroduplex analysis was used to search for small mutations in a sample of 40 Italian DMD/BMB patients in whom large rearrangements were not found. A novel…”
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A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient by MOSNA, G, FATTORE, S, TUBIELLO, G, BROCCA, S, TRUBIA, M, GIANAZZA, E, GATTI, R, DANESINO, C, MINELLI, A, PIANTANIDA, M

“…We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote…”
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A homozygous missense arginine to histidine substitution at position 482 of the ?-galactosidase in an Italian infantile GM1-gangliosidosis patient by Mosna, G., Fattore, S., Tubiello, G., Brocca, S., Trubia, M., Gianazza, E., Gatti, R., Danesino, C., Minelli, A., Piantanida, M.

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Sequence-directed curvature of repetitive AluI DNA in constitutive heterochromatin of Artemia franciscana by Benfante, R, Landsberger, N, Tubiello, G, Badaracco, G

“…An Alu I family of repeated DNA sequence 113 bp in length was found to be the major component of the heterochromatin in Artemia franciscana. On the basis of…”
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Mutational analysis of muscle and brain specific promoter regions of dystrophin gene in DMD/BMD Italian patients by denaturing gradient gel electrophoresis (DGGE) by Tubiello, Grazia, Carrera, Paola, Soriani, Nadia, Morandi, Lucia, Ferrari, Maurizio

“…In order to characterize the nature of mutations occurring in non-deleted Duchenne (DMD) and Becker muscular dystrophy (BMD) affected males, a total of 40…”
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Sequence-directed curvature of repetitive Alul DNA in constitutive heterochromatin of Artemia franciscana by BENFANTE, R, LANDSBERGER, N, TUBIELLO, G, BADARECCO, G

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Highly repetitive DNA sequence in parthenogenetic Artemia by BADARACCO, G, TUBIELLO, G, BENFANTE, R, COTELLI, F, MAIORANO, D, LANDSBERGER, N

“…The study of the structural organization of the eukaryotic genome is one of the most important tools for disclosing the evolutionary relationships between…”
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