Sfoglia per Autore
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria : report of four novel mutations
2000 F. Martinez di Montemuros, E. Di Pierro, S. Fargion, G. Biolcati, D. Griso, A. Macrì, G. Fiorelli, M.D. Cappellini
Acute intermittent porphyria : heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy
2001 F. Martinez di Montemuros, E. Di Pierro, G. Biolcati, E. Rocchi, E. Bissolotti, D. Tavazzi, G. Fiorelli, M.D. Cappellini
Hematologically important mutations : acute intermittent porphyria
2002 M.D. Cappellini, F. Martinez di Montemuros, E. Di Pierro, G. Fiorelli
Molecular characterization of porphyrias in Italy : a diagnostic flow-chart
2002 F. Martinez di Montemuros, E. Di Pierro, E. Patti, D. Tavazzi, M.G. Danielli, G. Biolcati, E. Rocchi, M.D. Cappellini
Human gene mutations. Gene symbol : FECH. Disease : Porphyria, erythropoietic
2004 E. Di Pierro, V. Moriondo, M.D. Cappellini
Gene symbol : FECH. Disease : Porphyria, erythropoietic
2004 E. Di Pierro, V. Moriondo, M.D. Cappellini
Gene symbol : HBMS. Disease : Porphyria, acute intermittent
2004 E. Di Pierro, E.A. Roselli, M.D. Cappellini
Gene Symbol : PPOX. Disease : Variegate Porphyria
2004 E. Patti, E. Di Pierro, M.D. Cappellini
Gene symbol : HMBS. Disease : porphyria, acute intermittent
2004 E. Di Pierro, E. Patti, M.D. Cappellini
Erythropoietic protoporphyria : genotype, phenotype and fluorocytes count relationship
2005 M.D. Cappellini, E. Di Pierro, V. Moriondo, P. Bonara, E. Patti
Gene symbol: HMBS. Disease: Porphyria, acute intermittent
2005 E. Di Pierro, V. Brancaleoni, M.D. Cappellini
A point mutation affecting an SP1 binding site in the promoter of ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria
2005 E. Di Pierro, M.D. Cappellini, R. Mazzucchelli, D. Mologni, B. Zanone Poma, A. Riva
Gene symbol : HMBS. Disease : Porphyria, acute intermittent
2005 E. Di Pierro, V. Besana, M.D. Cappellini
Gene symbol : HMBS. Disease : Porphyria, acute intermittent
2005 E. Di Pierro, V. Moriondo, M.D. Cappellini
Erythropoietic protoporphyria : genotype, phenotype and fluorocytes count relationship
2005 E. Di Pierro, V. Moriondo, P. Bonara, E. Patti, M.D. Cappellini
Two Functional mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic protoporphyria (EPP)
2005 E. Di Pierro, V. Brancaleoni, V. Moriondo, M.D. Cappellini
Large deletion of Cromosome 11 causes acute intermittent porphiryria in an Italian family
2005 E. Di Pierro, V. Besana, V. Moriondo, D. Tavazzi, G. Casalgrande, E. Rocchi, M.D. Cappellini
Gene symbol: FECH. Disease: Porphyria, erythropoietic
2006 E. Di Pierro, V. Brancaleoni, V. Moriondo, V. Besana, M.D. Cappellini
A large deletion on chromosome 11 in acute intermittent porphyria
2006 E. Di Pierro, V. Besana, V. Moriondo, V. Brancaleoni, D. Tavazzi, G. Casalgrandi, P. Ventura, E. Rocchi, M.D. Cappellini
Ten novel mutations in the HMBS gene responsible for acute intermittent porphyria
2007 E. Di Pierro, V. Besana, V. Brancaleoni, S. Ausenda, D. Tavazzi, M.D. Cappellini
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