MOLECULAR GENETIC ANALYSIS OF OSTEOGENESIS IMPERFECTA AND SOME RELATED COLLAGEN DISEASES

Pubblicazioni Scientifiche

• 1994 JOURNAL OF BIOLOGICAL CHEMISTRY

  SUBSTITUTION OF AN ASPARTIC-ACID FOR GLYCINE-700 IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A RECURRENT LETHAL TYPE-II OSTEOGENESIS IMPERFECTA DRAMATICALLY AFFECTS THE MINERALIZATION OF BONE

• 1994 JOURNAL OF MEDICAL GENETICS

  DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION

• 1994 HUMAN MOLECULAR GENETICS

  SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX

• 1995 HUMAN MUTATION

  A 931+2T-]C TRANSITION IN ONE COL1A2 ALLELE CAUSES EXON-16 SKIPPING IN PRO-ALPHA-2(I) MESSENGER-RNA AND PRODUCES MODERATELY SEVERE OI

• 1994 HUMAN GENETICS

  A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA