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Haplotype analysis of collagen type I genes in the general population and in ...

Mottes(M),Sangalli(A),Pignatti(P F) Am J Med Genet 1993-04-22

The allele frequencies of 2 new polymorphic markers of collagen type I proalpha 1 (COL1A1) and proalpha 2 (COL1A2) genes...

Osteogenesis imperfecta type III: mutations in the type I collagen structural...

Wallis(G A),Sykes(B),Byers(P H),Mathew(C G... J Med Genet 1993-08-10

Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, th...

Homology-mediated recombination between type I collagen gene exons results in...

Cohn(D H),Zhang(X),Byers(P H) Hum Mutat 1993-05-21

...COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta. The structure of the mu...

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen cha...

Mackay(K),Lund(A M),Raghunath(M),Steinmann... Hum Genet 1993-07-28

...COL1A1. A heterozygous transversion of G to T within the last glycine codon of exon 32 was identified by DNA sequence an...

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia...

Tommerup(N),Schempp(W),Meinecke(P),Pederse... Nat Genet 1993-09-16

...COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail-short (Ts) which maps to the homologous s...

Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of ...

Chessler(S D),Wallis(G A),Byers(P H) J Biol Chem 1993-09-16

...COL1A1 (the gene encoding the pro alpha 1(I) chain of type I procollagen) that impair chain association. The three mutat...

Pro-alpha 2(V) collagen gene; pairwise analysis of the amino-propeptide codin...

Truter(S),Andrikopoulos(K),Di Liberto(M),W... Connect Tissue Res 1993-09-01

...COL1A1), pro alpha 1(II) (COL2A1), pro-alpha 1(III) (CO13A1) and pro-alpha 2(V) (COL5A2) collagen genes. This revealed t...

Susceptibility of type I collagen containing mutated alpha 1(1) chains to cle...

Hasty(K A),Wu(H),Byrne(M),Goldring(M B),Se... Matrix 1993-08-06

...Col1a1 gene and found that the pattern of susceptibility to cleavage by purified neutrophil collagenase was indistinguis...

A fibroblast protein binds the 3'-untranslated region of pro-alpha 1(I) colla...

Määttä(A),Penttinen(R P) Biochem J 1993-12-14

Post-transcriptional regulation of the expression of the pro alpha 1(I) chain of type I collagen (COL1A1) was studied by...

Type I procollagens containing substitutions of aspartate, arginine, and cyst...

Lightfoot(S J),Holmes(D F),Brass(A),Grant(... J Biol Chem 1993-01-12

...COL1A1 gene of type I procollagen. The procollagens were mixtures of normal molecules and molecules that contained subst...

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