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MINCHIOTTI, LORENZO

MINCHIOTTI, LORENZO  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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Risultati 1 - 20 di 89 (tempo di esecuzione: 0.041 secondi).
Titolo Data di pubblicazione Autore(i) File
A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin. 1-gen-1991 Watkins, S; Madison, J; Davis, E; Sakamoto, Y; Galliano, Monica; Minchiotti, Lorenzo; Putnam, Fw
A genetic variant of albumin (albumin Asola; Tyr140-->Cys) with no free -SH group but with an additional disulfide bridge. 1-gen-1995 Minchiotti, Lorenzo; Galliano, Monica; Kragh Hansen, U; Watkins, S; Madison, J; Putnam, F. W.
A new bisalbuminemia: bisalbuminemia of Kenitra 1-gen-2000 Granel, B; Serratrice, J; Galliano, Monica; Minchiotti, Lorenzo; Disdier, P; Weiller, P. J.
A new proalbumin variant: albumin Jaffna (-1Arg--->Leu) 1-gen-1989 Galliano, Monica; Minchiotti, Lorenzo; Stoppini, Monica; Tarnoky, Al
A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient. 1-gen-2010 Dagnino, M; Caridi, G; Marsciani, M; Bettocchi, I; Tassinari, D; Bernardi, F; Chiodo, F; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. 1-gen-2010 Dagnino, M; Caridi, G; Aydin, Z; Ozturk, S; Karaali, Z; Kazancioglu, R; Cefle, K; Gursu, M; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. 1-gen-2013 Caridi, G; Dagnino, M; Lugani, F; Shalev, Sa; Campagnoli, Monica; Galliano, Monica; Spiegel, R; Minchiotti, Lorenzo
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. 1-gen-2009 Caridi, G; Kacem, M; Campagnoli, Monica; Dagnino, M; Debbabi, W; Kochtali, I; Neffati, F; Galliano, Monica; Minchiotti, Lorenzo
A novel splicing mutation causes an undescribed type of analbuminemia. 1-gen-2002 Campagnoli, Monica; Rossi, Antonio; Palmqvist, L; Flisberg, A; Niklasson, A; Minchiotti, Lorenzo; Galliano, Monica
A novel splicing mutation causes analbuminemia in a Portuguese boy. 1-gen-2012 Caridi, G; Dagnino, M; Di Duca, M; Pinto, H; Espinheira Mdo, C; Guerra, A; Fernandes, S; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant 1-gen-2016 Caridi, Gianluca; Thomas, Wolfgang; Campagnoli, Monica; Lugani, Francesca; Galliano, Monica; Minchiotti, Lorenzo
A novel two bases deletion in the albumin gene causes analbuminaemia in a young turkish man. 1-gen-2012 Caridi, G; Dagnino, M; Di Duca, M; Akyuz, F; Boztas, G; Besisik, F; Demir, K; Ormeci, A; Gokturk, S; Cefle, K; Ozturk, Ş; Palanduz, S; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. 1-gen-2016 Caridi, G; Gulec, Ey; Campagnoli, Monica; Lugani, F; Onal, H; Kilic, D; Galliano, Monica; Minchiotti, Lorenzo
A nucleotide insertion and frameshift cause albumin Kenitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. 1-gen-2001 Minchiotti, Lorenzo; Campagnoli, Monica; Rossi, Antonio; Cosulich, MARIA ELISABETTA; Galliano, Monica; Monti, M; Pucci, P; Kragh Hansen, U.; Granel, B; Disdier, P; Weiller, P. j.
A structural study of pig liver glyceraldehyde-3-phosphate dehydrogenase. 1-gen-1976 Zapponi, Mc; Ferri, G; Minchiotti, Lorenzo; Forcina, B. G.
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. 1-gen-2012 Caridi, G; Dagnino, M; Di Duca, M; Santra, S; Ball, S; Sulaiman, Ra; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin. 1-gen-2010 Caridi, G; Dagnino, M; Simundic, Am; Miler, M; Stancic, V; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
Amino acid sequence around the pyridoxal 5'-phosphate binding sites of 6-phosphogluconate dehydrogenase. 1-gen-1981 Minchiotti, Lorenzo; Ronchi, S; Rippa, M.
An active site-tyrosine-containing heptapeptide from D-amino acid oxidase. 1-gen-1980 Ronchi, S; Galliano, Monica; Minchiotti, Lorenzo; Curti, B; Rudie, Ng; Porter, Dj; Bright, H. J.
Analbuminemia in a Slovak Romany (gypsy) family: Case report and mutational analysis. 1-gen-2006 Campagnoli, Monica; Rosipal, S.; Debreova, M.; Rosipal, R.; Sala, Alberto; Romano, Assunta; Labo', Sara; Galliano, Monica; Minchiotti, Lorenzo