Wenstrup(R J),Florer(J B),Willing(M C),Giunt… Am J Hum Genet 2001-06-07

...COL5A1 showed complete or nearly complete loss of expression of one COL5A1 allele. Reduced levels of proalpha1(V) mRNA r...

Inkinen(K),Turakainen(H),Wolff(H),Ahonen(J) Connect Tissue Res 2000-06-26

...COL5A1 gene sequences. The clone pRCVA1 is 560 nucleotides long and it encodes for the carboxy propeptide of type V proc...

Giunta(C),Steinmann(B) Am J Med Genet 2000-02-29

...COL5A1 gene, which represents the first report of a glycine substitution in the main triple-helical region of alpha1(V) ...

Grond-Ginsbach(C),Weber(R),Haas(J),Orberk(E)… Stroke 1999-10-08

...COL5A1) as a candidate gene for sCAD.,We searched for mutations in the COL5A1 gene in cDNA from cultured fibroblasts of ...

Richards(A J),Martin(S),Nicholls(A C),Harris… J Med Genet 1999-01-05

...COL5A1 but was concordant with COL5A2 as the disease locus. The entire open reading frame of the COL5A2 cDNA was directl...

Endo(T),Imanishi(T),Gojobori(T),Inoko(H) Gene 1998-02-18

...COL5A1), NOTCH1, 78 kDa glucose-regulated protein (HSPA5), valyl-tRNA synthetase 1 (VARS1), complement component V (C5),...

Burrows(N P),Nicholls(A C),Richards(A J),Luc… Am J Hum Genet 1998-12-24

...COL5A1 polymorphism, we have demonstrated linkage, at zero recombination, to the same allele in two large British EDS ty...

Wu(Y L),Sumiyoshi(H),Khaleduzzaman(M),Ninomi… Biochim Biophys Acta 1998-07-01

...Col5a1) were isolated. The conceptual amino acid translation indicated a high degree of sequence identity (94%) with the...

Burrows(N P),Nicholls(A C),Yates(J R),Richar… Clin Exp Dermatol 1998-03-19

To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome (EDS), we have carried out linkage stud...

De Paepe(A),Nuytinck(L),Hausser(I),Anton-Lam… Am J Hum Genet 1997-03-18

...COL5A1, the gene encoding the pro(alpha)1(V) collagen chain, segregating with EDS I in a four-generation family. The mut...