| 1 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
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| Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT.
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| Clin Genet 82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24.
2012
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| 2 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
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| Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B.
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| Am J Med Genet A 146A(10):1341-6. No abstract available. 2008
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| 3 | 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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| 4 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
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| Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.
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| Am J Med Genet 72(1):94-105. 1997
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| 5 | EDS7A2
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| The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
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| Carr AJ, et al.
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| J Med Genet 31 : 306-311. 1994
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| 6 | COL1A2, EDS7A2
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| Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
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| Ho KKY, et al.
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| Hum Mutat 3 : 358-364. 1994
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| 7 | EDS7A2
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| A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
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| Chiodo AA, et al.
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| J Biol Chem 267 : 6361-6369. 1992
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| 8 | EDS7A2
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| Ehlers-Danlos syndrome type VII : a single base change that causes exon skipping in the type I collagen alpha2(I) chain.
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| Nicholls AC, et al.
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| Hum Genet 87 : 193-198. 1991
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| 9 | EDS7A2, COL1A2
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| Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII : further evidence of molecular homogeneity.
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| D'Alessio M, et al.
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| Am J Hum Genet 49 : 400-406. 1991
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| 10 | EDS7A2
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| A mutation in the pro-alpha-2(I) gene (COLIA2) for type I procollagen in Ehlers-Danlos syndrome type VII : evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
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| Vasan NS, et al.
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| Am J Hum Genet 48 : 305-317. 1991
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| 11 | COL1A2, EDS7A2
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| Structural and functional characterization of a splicing mutation in the Pro-alpha-2(I) collagen gene of an Ehlers-Danlos type VII patient.
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| Weil D, et al.
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| J Biol Chem 265 : 16007-16011. 1990
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