共 50 条
- [21] PREMATURE TERMINATION MUTATIONS IN THE COL1A1 GENE INTERFERE WITH MESSENGER-RNA STABILITY DURING RNA PROCESSING IN OSTEOGENESIS IMPERFECTA TYPE-I CELL STRAINSAMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 34 - 34SLAYTON, RLDESCHENES, SPWILLING, MC
- [22] Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfectaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (07) : 1907 - 1912Ackermann, Amanda M.Levine, Michael A.
- [23] Premature termination mutations in the COL1A1 gene lead to null alleles and osteogenesis imperfecta type I.JOURNAL OF BONE AND MINERAL RESEARCH, 1997, 12 : S526 - S526Willing, MCSlayton, RLDeschenes, SP
- [24] MUTATIONS IN TYPE-I PROCOLLAGEN GENES THAT CAUSE OSTEOGENESIS IMPERFECTAADVANCES IN HUMAN GENETICS, 1990, 19 : 105 - 132PROCKOP, DJBALDWIN, CTCONSTANTINOU, CD
- [25] 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
- [26] Collagen type I gene mutations of alpha 1 chain (Col1A1) in Czech patients with osteogenensis imperfecta syndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 258 - 258Marikova, OMazura, IMarik, IZemkova, DKuklik, MMazurova, SLeznarova, DCapek, P
- [27] LINKAGE ANALYSIS OF TYPE-I OSTEOGENESIS IMPERFECTAJOURNAL OF BONE AND MINERAL RESEARCH, 1995, 10 : S397 - S397PURCHIT, KRBURSHELL, ALPRAKASH, O
- [28] MOLECULAR HETEROGENEITY IN OSTEOGENESIS IMPERFECTA TYPE-IAMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (02): : 223 - 227WILLING, MCPRUCHNO, CJBYERS, PH
- [29] TYPE-I COLLAGEN-SYNTHESIS IN OSTEOGENESIS IMPERFECTA AND IDIOPATHIC OSTEOPOROSISJOURNAL OF BONE AND MINERAL RESEARCH, 1995, 10 : S235 - S235SHAPIRO, JRFRAZIER, CFFEDARKO, NSNIU, CPAVLOV, E
- [30] OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE-I COLLAGEN STRUCTURAL GENESLANCET, 1986, 2 (8498): : 69 - 72SYKES, BOGILVIE, DWORDSWORTH, PANDERSON, JJONES, N