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Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain a...

Knebelmann(B),Deschenes(G),Gros(F),Hors(M ... Am J Hum Genet 1992-07-23

...COL1A1 or COL1A2 genes have been associated with many cases of osteogenesis imperfecta. This gly325-to-arg substitution ...

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of typ...

Willing(M C),Pruchno(C J),Atkinson(M),Byer... Am J Hum Genet 1992-09-10

...COL1A1 allele. Loss of an allele through deletion or rearrangement was not the cause of the diminished COL1A1 mRNA level...

Differential utilization of regulatory domains within the alpha 1(I) collagen...

Pavlin(D),Lichtler(A C),Bedalov(A),Kream(B... J Cell Biol 1992-02-18

...COL1A1) gene in osseous tissues, we fused a 3.6-kb DNA fragment between bases -3,521 and +115 of the rat COL1A1 promoter...

Transforming-growth-factor-beta activation elements in the distal promoter re...

Ritzenthaler(J D),Goldstein(R H),Fine(A),L... Biochem J 1992-01-08

...COL1A1) 1600 bases upstream of the transcription start site which mediates transcriptional activation by transforming gr...

A strategy for rapid production and screening of yeast artificial chromosome ...

Strauss(W M),Jaenisch(E),Jaenisch(R) Mamm Genome 1992-04-16

...Col1a1) gene as well as 40 kb clones from the Hox-2 locus. To characterize the representation of the YAC library, the si...

Transgenic mice that express a mini-gene version of the human gene for type I...

Khillan(J S),Olsen(A S),Kontusaari(S),Soko... J Biol Chem 1992-01-13

...COL1A1) was prepared that contained -2.5 kilobases of the promoter region and the 5'- and 3'-ends of the gene but lacked...

High levels of expression of a minigene version of the human pro alpha 1 (I) ...

Olsen(A S),Geddis(A E),Prockop(D J) J Biol Chem 1991-02-12

...COL1A1) was prepared that contained -2.3 kilobases of the 5'-flanking sequence, the first 5 exons and introns, the last ...

Retrovirus-induced interference with collagen I gene expression in Mov13 fibr...

Chan(H),Hartung(S),Breindl(M) Mol Cell Biol 1991-02-14

...COL1A1) gene in Mov13 fibroblasts. In Mov13 mice, a retroviral provirus has inserted into the first intron of the COL1A1...

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndr...

D'Alessio(M),Ramirez(F),Blumberg(B D),Wirt... Am J Hum Genet 1991-09-06

...COL1A1). The affected allele produces (a) transcripts lacking exon 6 sequences and (b), in lesser amount, normally splic...

A single base mutation in type I procollagen (COL1A1) that converts glycine a...

Zhuang(J P),Constantinou(C D),Ganguly(A),P... Am J Hum Genet 1991-06-26

...COL1A1 gene. The results here confirm previous indications that the effects of glycine substitutions in type I procollag...

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