Citations for
Structural abnormalities of the cornea and lid resulting from collagen V mutations.
Segev F, Heon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE.
Invest Ophthalmol Vis Sci 47(2):565-73. 2006
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
Hum Mutat 25(1):28-37. 2005
Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.
Unsold C, Pappano WN, Imamura Y, Steiglitz BM, Greenspan DS.
J Biol Chem 277(7):5596-602. Epub 2001 Dec 12. 2002
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.
Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG.
Hum Mol Genet 7(2):249-55. 1998
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
Richards AJ, et al.
J Med Genet 35 : 846-848. 1998
Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
Cutting GR, et al.
Genomics 8 : 407-410. 1990
A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.
Bonaventure J, et al.
Am J Med Genet 33 : 299-310. 1989
Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.
Tsipouras P, et al.
Genomics 3 : 275-277. 1988
An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COL5A2).
Schwartz RC, et al.
Nucleic Acids Res 16 : 5225. 1988
10COL3A1, COL5A2
The pro alpha 2 (V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1)
Huerre-Jeanpierre C, Henry I, Bernard M, Gallano P, Weil D, Grzeschik KH, Ramirez F, Junien C.
Hum Genet 73 : 64-67. 1986
11COL3A1, COL5A2
Human alpha-1 (III) and alpha-2 (V) procollagen genes are located on the long arm of chromosome 2.
Emanuel BS, et al.
Proc Natl Acad Sci U S A 82 : 3385-3389. 1985