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Results: 1-6 |
Results: 6

Authors: ZOLEZZI F VALLI M CLEMENTI M MAMMI I CETTA G PIGNATTI PF MOTTES M
Citation: F. Zolezzi et al., MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY, American journal of medical genetics, 71(3), 1997, pp. 366-370

Authors: COHENSOLAL L ZOLEZZI F PIGNATTI PF MOTTES M
Citation: L. Cohensolal et al., INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE, Molecular and cellular probes, 10(3), 1996, pp. 219-225

Authors: ZOLEZZI F FORLINO A MOTTES M VALLI M SENSI A CALZOLARI E PIGNATTI PF CETTA G
Citation: F. Zolezzi et al., A 931-]C TRANSITION IN ONE COL1A2 ALLELE CAUSES EXON-16 SKIPPING IN PRO-ALPHA-2(I) MESSENGER-RNA AND PRODUCES MODERATELY SEVERE OI(2T), Human mutation, 6(3), 1995, pp. 268-271

Authors: CISLER J MATHEWS K WANG M ZOLEZZI F SEEMAYER TA PIGNATTI PF GORLIN RJ GODFREY M
Citation: J. Cisler et al., FIBRILLIN IN THE WEILL-MARCHESANI SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1210-1210

Authors: FORLINO A ZOLEZZI F VALLI M PIGNATTI PF CETTA G BRUNELLI PC MOTTES M
Citation: A. Forlino et al., SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX, Human molecular genetics, 3(12), 1994, pp. 2201-2206

Authors: VALLI M ZOLEZZI F MOTTES M ANTONIAZZI F STANZIAL F TENNI R PIGNATTI P CETTA G
Citation: M. Valli et al., GLY85 TO VAL SUBSTITUTION IN PRO-ALPHA-1(I) CHAIN CAUSES MILD OSTEOGENESIS IMPERFECTA AND INTRODUCES A SUSCEPTIBILITY TO PROTEASE DIGESTION, European journal of biochemistry, 217(1), 1993, pp. 77-82
Risultati: 1-6 |