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Mutations in collagen genes: causes of rare and some common diseases in human...

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

...COL1A1 and COL1A2) have been found in probands with osteogenesis imperfecta, a heritable disease of children characteriz...

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehle...

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

...COL1A1 gene or COL1A2 gene. No other mutations in the two type I procollagen genes have been found in the syndrome. Ther...

Studies on four restriction fragment length polymorphisms of the type I colla...

Pepe(G),Muglia(M),Brancati(C),Modiano(G) Hum Hered 1991-05-14

...COL1A1 (RsaI) and 3 RFLPs of COL1A2 (EcoRI, RsaI and MspI). A considerable heterogeneity for COL1A1/RsaI was found not o...

Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene b...

Määttä(A),Bornstein(P),Penttinen(R P) FEBS Lett 1991-03-27

Sequencing of the 3' untranslated region (3'-UTR) of the human COL1A1 gene revealed numerous putative regulatory motifs ...

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

Hawkins(J R),Superti-Furga(A),Steinmann(B)... J Biol Chem 1991-12-26

...COL1A1). The nucleotide sequence of the corresponding gene region showed, in one allele, the deletion of 9 base pairs, n...

Low basal transcription of genes for tissue-specific collagens by fibroblasts...

Chan(D),Cole(W G) J Biol Chem 1991-08-07

...COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, the COL2A1 gene that encode...

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopa...

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

...COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittlene...

Segregation analysis of the structural genes of the major fibrillar collagens...

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

...COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigree...

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides...

Pruchno(C J),Cohn(D H),Wallis(G A),Willing... Hum Genet 1991-07-02

...COL1A1 gene of type-I collagen.

Human-mouse interspecies collagen I heterotrimer is functional during embryon...

Wu(H),Bateman(J F),Schnieke(A),Sharpe(A),B... Mol Cell Biol 1990-05-02

...COL1A1 gene into Mov13 mice which have a functional deletion of the endogenous COL1A1 gene. Transgenic mouse strains (Hu...

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