共 50 条
- [21] MODERATELY SEVERE OSTEOGENESIS IMPERFECTA ASSOCIATED WITH SUBSTITUTIONS OF SERINE FOR GLYCINE IN THE ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (02): : 241 - 245
- [22] A SINGLE BASE MUTATION IN TYPE-I PROCOLLAGEN (COL1A1) THAT CONVERTS GLYCINE ALPHA-1-541 TO ASPARTATE IN A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA - DETECTION OF THE MUTATION WITH A CARBODIIMIDE REACTION OF DNA HETERODUPLEXES AND DIRECT SEQUENCING OF PRODUCTS OF THE PCR AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (06) : 1186 - 1191
- [23] A CYSTEINE FOR GLYCINE SUBSTITUTION OUTSIDE OF THE TRIPLE HELICAL DOMAIN OF THE ALPHA-1(I) CHAIN PRODUCES MILD, DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA COLLAGEN AND RELATED RESEARCH, 1988, 8 (06): : 501 - 501
- [26] AN OSTEOPENIC NONFRACTURE SYNDROME WITH FEATURES OF MILD OSTEOGENESIS IMPERFECTA ASSOCIATED WITH THE SUBSTITUTION OF A CYSTEINE FOR GLYCINE AT TRIPLE HELIX POSITION-43 IN THE PRO-ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (02): : 567 - 573
- [28] SUBSTITUTIONS OF ASPARTIC-ACID FOR GLYCINE-220 AND OF ARGININE FOR GLYCINE-664 IN THE TRIPLE-HELIX OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN PRODUCE LETHAL OSTEOGENESIS IMPERFECTA AND DISRUPT THE ABILITY OF COLLAGEN FIBRILS TO INCORPORATE CRYSTALLINE HYDROXYAPATITE BIOCHEMICAL JOURNAL, 1995, 311 : 815 - 820
- [29] THE SUBSTITUTION OF ARGININE FOR GLYCINE-85 OF THE ALPHA-1(I) PROCOLLAGEN CHAIN RESULTS IN MILD OSTEOGENESIS IMPERFECTA - THE MUTATION PROVIDES DIRECT EVIDENCE FOR 3 DISCRETE DOMAINS OF COOPERATIVE MELTING OF INTACT TYPE-I COLLAGEN JOURNAL OF BIOLOGICAL CHEMISTRY, 1991, 266 (32) : 21827 - 21832