共 50 条
- [1] A SUBSTITUTION OF CYSTEINE FOR GLYCINE-748 OF THE ALPHA-1 CHAIN PRODUCES A KINK IN THE TYPE-I PROCOLLAGEN MOLECULE COLLAGEN AND RELATED RESEARCH, 1988, 8 (06): : 505 - 505
- [2] SUBSTITUTION OF CYSTEINE FOR GLYCINE-904 OF THE ALPHA-1(I) CHAIN IN A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA PROCOLLAGEN - THE ASYMPTOMATIC MOTHER IS A CARRIER OF A DIFFERENT MUTATION IN TYPE-I PROCOLLAGEN AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (01): : 138 - 138
- [3] SUBSTITUTION OF CYSTEINE FOR GLYCINE-946 IN THE ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN CAUSES LETHAL OSTEOGENESIS IMPERFECTA JOURNAL OF BIOCHEMISTRY, 1994, 115 (05): : 853 - 857
- [4] SUBSTITUTION OF CYSTEINE FOR GLYCINE-904 OF THE ALPHA-1(I) CHAIN IN A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA - THE ASYMPTOMATIC MOTHER IS A CARRIER OF A DIFFERENT MUTATION IN TYPE-I PROCOLLAGEN COLLAGEN AND RELATED RESEARCH, 1988, 8 (06): : 504 - 504
- [7] A SINGLE BASE MUTATION THAT CONVERTS GLYCINE-907 OF THE ALPHA-2(I) CHAIN OF TYPE-I PROCOLLAGEN TO ASPARTATE IN A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA - THE SINGLE AMINO-ACID SUBSTITUTION NEAR THE CARBOXYL TERMINUS DESTABILIZES THE WHOLE TRIPLE HELIX JOURNAL OF BIOLOGICAL CHEMISTRY, 1989, 264 (05) : 3002 - 3006
- [8] A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA HAS A SINGLE BASE MUTATION THAT SUBSTITUTES CYSTEINE FOR GLYCINE 904 OF THE ALPHA1(I) CHAIN OF TYPE-I PROCOLLAGEN - THE ASYMPTOMATIC MOTHER HAS AN UNIDENTIFIED MUTATION PRODUCING AN OVERMODIFIED AND UNSTABLE TYPE-I PROCOLLAGEN JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (02): : 574 - 584