| 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, EDS1A
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| Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
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| Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS.
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| Am J Hum Genet 71(3):451-65. 2002
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| 3 | COL5A1, EDS1A
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| Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of ehlers-danlos syndrome: An explanation of intrafamilial variability?
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| Giunta C, Steinmann B.
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| Am J Med Genet 90(1):72-9 2000
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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
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| Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
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| Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A.
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| Am J Hum Genet 66(4):1398-402. Epub 2000 Mar 17.
2000
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| 7 | 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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| 8 | 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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| 9 | COL5A1, EDS1A
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| A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
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| Toriello HV, et al.
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| Nat Genet 13 : 361-365. 1996
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| 10 | COL5A1, EDS1A
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| A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proalpha1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
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| Wenstrup RJ, et al.
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| Hum Mol Genet 5 : 1733-1736. 1996
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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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