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Spotila(L D),Constantinou(C D),Sereda(L),G... Proc Natl Acad Sci U S A 1991-07-19

Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable diseas...

Wordsworth(B P),Ogilvie(D J),Sykes(B C) Br J Rheumatol 1991-07-22

...COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in wh...

Stuiver(I),Shimizu(Y),Shimizu(N) Biochem J 1991-10-21

...COL1A2) [Amagai, Inokuchi, Nishikawa, Shimizu & Shimizu (1989) Somat. Cell Mol. Genet. 15, 153-158]. Here we examined th...

Sherwood(A L),Bottenus(R E),Martzen(M R),B... Gene 1990-08-30

...COL1A2 does not extend to the first introns of these genes but that the promoter activity of COL1A2 is strongly influenc...

Mottes(M),Cugola(L),Cappello(N),Pignatti(P F) J Med Genet 1990-07-27

...COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genet...

Phillips(C L),Shrago-Howe(A W),Pinnell(S R... J Clin Invest 1990-12-28

...COL1A2 fragment. The analysis of 52 control individuals (103 chromosomes) was negative for the new Bsu36 I site, suggest...

Boileau(C),Jondeau(G),Bonaiti(C),Coulon(M)... J Med Genet 1990-05-07

...COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small posi...

Blouin(J L),Rahmani(Z),Chettouh(Z),Prieur(... Am J Hum Genet 1990-04-04

...COL1A2) and two chromosome 21 (D21S11 and D21S17) probes. Among the 10 DNAs analyzed, it was possible to diagnose, with ...

Sykes(B),Ogilvie(D),Wordsworth(P),Wallis(G... Am J Hum Genet 1990-03-12

...COL1A2. On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). The c...

Wu(H),Byrne(M H),Stacey(A),Goldring(M B),B... Proc Natl Acad Sci U S A 1990-09-04

...Col1a2 gene were also resistant to enzyme digestion when they were complexed with the mutant alpha 1(I) chains, indicati...