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- [1] MUTATIONS IN THE CARBOXYL-TERMINAL PROPEPTIDE OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN RESULT IN DEFECTIVE CHAIN ASSOCIATION AND PRODUCE LETHAL OSTEOGENESIS IMPERFECTAJOURNAL OF BIOLOGICAL CHEMISTRY, 1993, 268 (24) : 18218 - 18225CHESSLER, SDWALLIS, GABYERS, PH
- [2] THE CLINICAL-FEATURES OF OSTEOGENESIS IMPERFECTA RESULTING FROM A NONFUNCTIONAL CARBOXY TERMINAL PRO-ALPHA-1(I) PROPEPTIDE OF TYPE-I PROCOLLAGEN AND A SEVERE DEFICIENCY OF NORMAL TYPE-I COLLAGEN IN TISSUESJOURNAL OF MEDICAL GENETICS, 1990, 27 (09) : 545 - 551COLE, WGCAMPBELL, PEROGERS, JGBATEMAN, JF
- [3] FRAMESHIFT MUTATION NEAR THE 3' END OF THE COL1A1 GENE OF TYPE-I COLLAGEN PREDICTS AN ELONGATED PRO-ALPHA-1(I) CHAIN AND RESULTS IN OSTEOGENESIS IMPERFECTA TYPE-IJOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (01): : 282 - 290WILLING, MCCOHN, DHBYERS, PH
- [4] A HOMOZYGOUS FRAMESHIFT MUTATION IN THE PRO-ALPHA-2(I) COLLAGEN COOH-PROPEPTIDE RESULTS IN OSTEOGENESIS IMPERFECTAANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1985, 460 : 482 - 485MYERS, JCDICKSON, LAPOPE, FMKORHONEN, VRNICHOLLS, APROCKOP, DJPIHLAJANIEMI, T
- [5] FRAMESHIFT MUTATION NEAR THE 3' END OF THE COL1A1 GENE PREDICTS AN ELONGATED PRO-ALPHA-1(I) CHAIN AND RESULTS IN OSTEOGENESIS IMPERFECTA TYPE-ICOLLAGEN AND RELATED RESEARCH, 1988, 8 (06): : 500 - 501WILLING, MCCOHN, DHBYERS, PH
- [6] ENDOPLASMIC RETICULUM-MEDIATED QUALITY-CONTROL OF TYPE-I COLLAGEN PRODUCTION BY CELLS FROM OSTEOGENESIS IMPERFECTA PATIENTS WITH MUTATIONS IN THE PRO-ALPHA-1(I) CHAIN CARBOXYL-TERMINAL PROPEPTIDE WHICH IMPAIR SUBUNIT ASSEMBLYJOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (15) : 8642 - 8649LAMANDE, SRCHESSLER, SDGOLUB, SBBYERS, PHCHAN, DCOLE, WGSILLENCE, DOBATEMAN, JF
- [7] The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1(I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrixJOURNAL OF MEDICAL GENETICS, 1996, 33 (11) : 965 - 967Cole, WGChow, CWBateman, JFSillence, DO
- [9] SUBSTITUTION OF CYSTEINE FOR GLYCINE WITHIN THE CARBOXYL-TERMINAL TELOPEPTIDE OF THE ALPHA-1-CHAIN OF TYPE-I COLLAGEN PRODUCES MILD OSTEOGENESIS IMPERFECTAJOURNAL OF BIOLOGICAL CHEMISTRY, 1988, 263 (29) : 14605 - 14607COHN, DHAPONE, SEYRE, DRSTARMAN, BJANDREASSEN, PCHARBONNEAU, HNICHOLLS, ACPOPE, FMBYERS, PH
- [10] MEASUREMENT OF CARBOXYL-TERMINAL PROPEPTIDE OF HUMAN TYPE-I COLLAGEN IN INFLAMMATORY DISEASES OF THE LIVERHEPATOLOGY, 1982, 2 (05) : 720 - 720KODA, KWU, GYHAIT, PSEIFTER, S