| 1 | COL5A1,COL5A2,EDS1A,EDS2
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| The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
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| Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
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| Hum Mutat 25(1):28-37. 2005
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| 2 | COL5A1, EDS2
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| Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
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| Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.
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| Am J Med Genet 109(4):284-90. 2002
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| 3 | COL5A1, EDS2
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| COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
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| Bouma P, Cabral WA, Cole WG, Marini JC.
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| J Biol Chem 276(16):13356-64. 2001
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| 4 | COL5A1, EDS1A, EDS2
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| COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS.
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| Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG.
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| Am J Hum Genet 66(6):1766-1776. 2000
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| 5 | EDS1A, EDS2
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| Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II).
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| Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH.
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| Am J Hum Genet 66(6):1757-1765. 2000
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| 6 | EDS1A, EDS1B, EDS2, EDS3, EDS4A, EDS6, EDS7A1, EDS7A2, EDS10, OHS
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| Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997.
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| Beighton P, et al.
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| Am J Med Genet 77 : 31-37. 1998
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| 7 | COL5A1, EDS2
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| A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.
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| Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM.
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| Am J Hum Genet 63 : 390-398. 1998
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| 8 | COL5A2, EDS2
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| A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
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| Richards AJ, et al.
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| J Med Genet 35 : 846-848. 1998
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| 9 | COL5A1, EDS1A, EDS2
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| Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
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| De Paepe A, et al.
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| Am J Hum Genet 60 : 547-554. 1997
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| 10 | COL5A1, EDS2
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| Aberrant splicing due to an intronic point mutation in a lariat branchpoint sequence in COL5A1 causes Ehlers-Danlos syndrome type II in two British families. (abstr)
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| Burrows NP, et al.
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| Am J Hum Genet 61 : A327. 1997
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| 11 | COL5A1, EDS1A, EDS2
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| An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
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| Nicholls AC, et al.
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| J Med Genet 33 : 940-946. 1996
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| 12 | EDS2
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| Linkage of the gene that encodes the alpha1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
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| Loughlin J, et al.
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| Hum Mol Genet 4 : 1649-1651. 1995
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