Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissectionsVON PEIN, Florian; VÄLKKILÄ, Merja; SCHWARZ, Ralf et al.Journal of neurology. 2002, Vol 249, Num 7, pp 862-866, issn 0340-5354, 5 p.Article

Natural variation in four human collagen genes across an ethnically diverse populationCHAN, Ting-Fung; POON, Annie; BASU, Analabha et al.Genomics (San Diego, Calif.). 2008, Vol 91, Num 4, pp 307-314, issn 0888-7543, 8 p.Article

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers―Danlos syndromeOKITA, Hiroshi; IKEDA, Yasunori; MITSUHASHI, Yoshihiko et al.Archives of dermatological research (Print). 2010, Vol 302, Num 5, pp 395-399, issn 0340-3696, 5 p.Article

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndromePLANCKE, Aurélie; HOLDER-ESPINASSE, Muriel; RIGAU, Valérie et al.European journal of human genetics. 2009, Vol 17, Num 11, pp 1411-1416, issn 1018-4813, 6 p.Article

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers―Danlos syndromeSHIMAOKA, Y; KOSHO, T; ONO, M et al.British journal of dermatology (1951). 2010, Vol 163, Num 4, pp 704-710, issn 0007-0963, 7 p.Article

RNAi-mediated inhibition of COL1A1 and COL3A1 in human skin fibroblastsQIONG WANG; ZHENHUI PENG; SHENGXIANG XIAO et al.Experimental dermatology. 2007, Vol 16, Num 7, pp 611-617, issn 0906-6705, 7 p.Article

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profileKROES, H. Y; PALS, G; VAN ESSEN, A. J et al.Clinical genetics. 2003, Vol 63, Num 3, pp 224-227, issn 0009-9163, 4 p.Article

Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphismTILLER, G. E; POLUMBO, P. A; SUMMAR, M. L et al.Genomics (San Diego, Calif.). 1994, Vol 20, Num 2, pp 275-277, issn 0888-7543Article

Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapseHENNEY, A. M; TSIPOURAS, P; SCHWARTZ, R. C et al.British heart journal. 1989, Vol 61, Num 3, pp 292-299, issn 0007-0769Article

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers- Danlos syndromeSMITH, Lee B; HADOKE, Patrick W. F; DYER, Emma et al.Cardiovascular research. 2011, Vol 90, Num 1, pp 182-190, issn 0008-6363, 9 p.Article

Vascular Ehlers-Danlos syndromeGERMAIN, Dominique P; HERRERA-GUZMAN, Yessica.Annales de génétique (Paris). 2004, Vol 47, Num 1, pp 1-9, issn 0003-3995, 9 p.Article

Activation of COL3A1 promoter activity by cyclosporineGINEVRI, F; GUSMANO, R; OLEGGINI, R et al.Transplantation proceedings. 1998, Vol 30, Num 4, pp 955-956, issn 0041-1345Conference Paper

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IVMADHATHERI, S. L; TROMP, G; GUSTAVSON, K.-H et al.Human molecular genetics (Print). 1994, Vol 3, Num 3, pp 511-512, issn 0964-6906Article

G to A polymorphism in exon 31 of the COL3A1 geneZAFARULLAH, K; KLEINERT, C; TROMP, G et al.Nucleic acids research. 1990, Vol 18, Num 20, issn 0305-1048, p. 6180Article

C to T polymorphism in exon 33 of the COL3A1 geneTROMP, G; KLEINERT, C; KUIVANIEMI, H et al.Nucleic acids research. 1991, Vol 19, Num 3, issn 0305-1048, p. 681Article

The proα2(V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1(III) collagen locus (COL3A1)HUERRE-JEANPIERRE, C; HENRY, I; BERNARD, M et al.Human genetics. 1986, Vol 73, Num 1, pp 64-67, issn 0340-6717Article

Regional mapping of Loci from human chromosome 2q to sheep chromosome 2qANSARI, H. A; PEARCE, P. D; MAHER, D. W et al.Genomics (San Diego, Calif.). 1994, Vol 20, Num 1, pp 122-124, issn 0888-7543Article

An EcoRI restriction fragment length polymorphism at the ovine locus for α₁ type III collagen (COL3A1)PHUA, S. H; COLLINS, L; WOOD, N et al.Animal genetics (Print). 1992, Vol 23, Num 5, issn 0268-9146, p. 477Article

A base substitution at as splice site in eh COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with ehlers-danlos syndrome type IVCOLE, W. G; CHIODO, A. A; LAMANDE, S. R et al.The Journal of biological chemistry (Print). 1990, Vol 265, Num 28, pp 17070-17077, issn 0021-9258, 8 p.Article

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicismPALMERI, S; MARI, F; MELONI, I et al.Clinical genetics. 2003, Vol 63, Num 6, pp 510-515, issn 0009-9163, 6 p.Article

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagenNARCISI, P; RICHARDS, A. J; FERGUSON, S. D et al.Human molecular genetics (Print). 1994, Vol 3, Num 9, pp 1617-1620, issn 0964-6906Article

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagenTSIPOURAS, P; BYERS, P. H; SCHWARTZ, R. C et al.Human genetics. 1986, Vol 74, Num 1, pp 41-46, issn 0340-6717Article

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermisSMITH, L. T; SCHWARZE, U; GOLDSTEIN, J et al.Journal of investigative dermatology. 1997, Vol 108, Num 3, pp 241-247, issn 0022-202XConference Paper

A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3MAYS, P. K; TROMP, G; KUIVANIEMI, H et al.Matrix (Stuttgart). 1992, Vol 12, Num 1, pp 44-49, issn 0934-8832Article

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1)BENSON-CHANDA, V; MING-WAN SU; WEIL, D et al.Gene (Amsterdam). 1989, Vol 78, Num 2, pp 255-265, issn 0378-1119Article