Nicholls(A C),Oliver(J E),McCarron(S),Harris… J Med Genet 1997-03-13

...COL5A1 showed a deletion of 54 bp. Although six Gly-X-Y triplets were lost, the essential triplet amino acid sequence an...

Smeets(H J),Knoers(V V),van de Heuvel(L P),L… Pediatr Nephrol 1997-03-20

...COl5A1 is not involved. The Finnish type is the best known of the different forms of congenital nephrotic syndrome. The ...

Wenstrup(R J),Langland(G T),Willing(M C),D'S… Hum Mol Genet 1997-03-11

...COL5A1 and COL5A2 was excluded in two other families with EDS I while a fourth family was concordant for linkage to COL5...

Burrows(N P),Nicholls(A C),Yates(J R),Gatwar… J Invest Dermatol 1996-12-12

...COL5A1 gene, which encodes the alphal chain of type V collagen, and EDS type II in a large British kindred. Using a poly...

Takahara(K),Hoffman(G G),Greenspan(D S) Genomics 1996-03-14

...COL5A1, the human gene that encodes the alpha 1 chain of fibrillar collagen type V. The structure of COL5A1 is shown to ...

Toriello(H V),Glover(T W),Takahara(K),Byers(… Nat Genet 1996-08-12

...COL5A1 in a patient with both EDS type I and hypomelanosis of Ito. The breakpoint occurs at 9q34 within COL5A1 intron 24...

Loughlin(J),Irven(C),Hardwick(L J),Butcher(S… Hum Mol Genet 1996-02-14

...COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of...

Lee(S),Greenspan(D S) Biochem J 1995-09-20

We have characterized the 5' region of the human alpha 1(V) collagen gene (COL5A1). The transcriptional promoter is show...

Cappa(F),Caridi(G),Gimelli(G),Ghiggeri(G M) Hum Genet 1995-06-27

...COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is ...

Greenspan(D S),Northrup(H),Au(K S),McAlliste… Genomics 1995-06-29

...COL5A1 intron. This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Re...