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A splice-junction mutation in the region of COL5A1 that codes for the carboxy...

Wenstrup(R J),Langland(G T),Willing(M C),D... Hum Mol Genet 1997-03-11

...COL5A2 was excluded in two other families with EDS I while a fourth family was concordant for linkage to COL5A1 (Z = 2.1...

Linkage mapping of the gene for type III collagen (COL3A1) to human chromosom...

Tiller(G E),Polumbo(P A),Summar(M L) Genomics 1994-08-04

...COL5A2 (Z = 9.93 at theta = 0) or D2S24 (Z = 10.55 at theta = 0). The locus order is (D2S32-D2S138-D2S148)--(D2S24-COL5A...

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

...COL5A2) collagen genes. This revealed that COL3A1 is the most closely related gene to COL5A2. Based on the assumption th...

Localization of pro-alpha 2(V) collagen transcripts in the tissues of the dev...

Andrikopoulos(K),Suzuki(H R),Solursh(M),Ra... Dev Dyn 1993-05-04

...col5a2) after the cloning and sequencing of cDNAs that cover the entire length of the message. Transcripts of col5a2, de...

Identification of an upstream regulatory region essential for cell type-speci...

Truter(S),Di Liberto(M),Inagaki(Y),Ramirez(F) J Biol Chem 1993-01-12

...COL5A2/protein interactions. Thus, COL5A2 expression appears to be under the positive control of a short regulatory sequ...

Mapping of the human COL5A1 gene to chromosome 9q34.3.

Caridi(G),Pezzolo(A),Bertelli(R),Gimelli(G... Hum Genet 1992-12-01

...COL5A2, which is localized together with other collagen genes on chromosome 2.

Segregation analysis of collagen genes in two families with joint hypermobili...

Henney(A M),Brotherton(D H),Child(A H),Hum... Br J Rheumatol 1992-04-07

...COL5A2) and type VI alpha 3 chain (COL6A3) unambiguously in both families. The simultaneous exclusion of both the type 1...

Linkage studies of four fibrillar collagen genes in three pedigrees with Lars...

Bonaventure(J),Lasselin(C),Mellier(J),Cohe... J Med Genet 1992-08-28

...COL5A2, allowed us to exclude these genes as the mutant loci. Supporting this, electrophoretic analysis of collagens der...

Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb reg...

Cutting(G R),McGinniss(M J),Kasch(L M),Tsi... Genomics 1991-01-16

The genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen hav...

Marfan syndrome: exclusion of genetic linkage to five genes coding for connec...

Kainulainen(K),Savolainen(A),Palotie(A),Ka... Hum Genet 1990-03-22

...COL5A2, and a third member of the collagen gene family: COL6A3. Furthermore, genes for elastin (ELN) and fibronectin (FN...

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