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Sokolov(B P),Dzemelinski(V V),Kalinin(V N) Hum Hered 1991-07-23

...COL1A2 gene, HindIII of the COL2A1 gene and EcoRI of the COL3A1 gene were found to be 0.836, 0.398, 0.447 and 0.786, res...

Nicholls(A C),Oliver(J),Renouf(D V),McPhea... Hum Genet 1991-08-13

...COL1A2 allele, substituting an A for a G as the first base of intron 6. This change mutates the obligate GT-dinulceotide...

Ganguly(A),Baldwin(C T),Strobel(D),Conway(... J Biol Chem 1991-07-24

...COL1A2). To reduce the amount of nucleotide sequencing required, heteroduplexes were prepared from two of the clones, on...

Kere(J),Tolvanen(R),Donis-Keller(H),de la ... Nucleic Acids Res 1991-07-11

...COL1A2. D7S15 and D7S79 were within 350 kb of each other. The physical distance between COL1A2 and EPO was determined to...

Kuivaniemi(H),Tromp(G),Prockop(D J) FASEB J 1991-05-07

...COL1A2) have been found in probands with osteogenesis imperfecta, a heritable disease of children characterized by fragi...

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...

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...

Cohn(D H),Byers(P H) Hum Genet 1991-08-13

To determine if some individuals with deforming varieties of osteogenesis imperfecta (OI) carry point mutations in the C...

Vasan(N S),Kuivaniemi(H),Vogel(B E),Minor(... Am J Hum Genet 1991-03-04

...COL1A2 gene. No other mutations in the two type I procollagen genes have been found in the syndrome. Therefore, such mut...

Wenstrup(R J),Shrago-Howe(A W),Lever(L W),... J Biol Chem 1991-03-07

...COL1A2 gene that resulted in cysteine for glycine substitutions at position 646 in the alpha 2(I) chain of type I collag...