A single base mutation that substitutes serine for glycine 790 of the α1 (III) chain of type III procollagen exposes and arginine and causes Ehlers-Danlos syndrome IV
Tromp, G.; Kuibaniemi, H.; Shikata, H.; Prockop, D.J.
Journal of Biological Chemistry 264(3): 1349-1352
1989
ISSN/ISBN: 0021-9258
Accession: 073805631
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Related References
Tromp, G.; Kuivaniemi, H.; Shikata, H. 1989: A single base mutation that substitutes serine for glycine 790 of the a1(III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV Journal of Biological Chemistry 264: 49-52Tromp, G.; Kuivaniemi, H.; Shikata, H.; Prockop, D.J. 1989: A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type IIi procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV Journal of Biological Chemistry 264(3): 1349-1352
Tromp, G.; Kuivaniemi, H.; Stolle, C.; Pope, F.M.; Prockop, D.J. 1989: Single base mutation in the type IIi procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV Journal of Biological Chemistry 264(32): 19313-19317
Narcisi, P.; Wu, Y.; Tromp, G.; Earley, J.J.; Richards, A.J.; Pope, F.M.; Kuivaniemi, H. 1993: Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV American Journal of Medical Genetics 46(3): 278-283
Tromp, G.; Kuivaniemi, H.; Stolle, C.; Pope, F.M.; Prockop, D.J. 1990: Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a proband with mild symptoms of Ehlers-Danlos syndrome IV New York Academy of Sciences Conference 2 580: 558-559
Tromp, G.; Kuivaniemi, H.; Stolle, C.; Pope, F.M.; Prockop, D.J. 1990: Single base mutation in the type iii procollagen gene that converts the condon for glycine 883 to aspartate in a proband with mild symptoms of ehlers danlos syndrome iv Fleischmajer, R , B R Olsen And K Kuehn (Ed ) Annals Of The New York Academy Of Sciences, Vol 580 Structure, Molecular Biology, And Pathology Of Collagen; Second New York Academy Of Sciences Conference on Collagen, Bethesda, Maryland, Usa, April 3-5, 1989 Xv+592p New York Academy Of Sciences: New York, New York, Usa Illus 558-559
Constantinou, C.D.; Nielsen, K.B.; Prockop, D.J. 1989: A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the α1(I) chain of type I procollagen: the asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen The Journal of Clinical Investigation 83(2): 574-584
Constantinou, C.D.; Nielsen, K.B.; Prockop, D.J. 1989: A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen Journal of Clinical Investigation 83(2): 574-584
Anderson, D.W.; Thakker-Varia, S.; Tromp, G.; Kuivaniemi, H.; Stolle, C.A. 1997: A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type IIi procollagen in a patient with Ehlers-Danlos syndrome type IV Human Mutation 9(1): 62-63
Vasan, N.S.; Kuivaniemi, H.; Vogel, B.E.; Minor, R.R.; Wootton, J.A.M.; Weksberg, R.; Prockop, D.J. 1990: A single base mutation in the pro alpha 2i gene of type i procollagen that causes in frame rna splicing from exon 5 to exon 7 in a proband with ehlers danlos syndrome type viib Matrix 10(4): 250
Westerhausen, A.; Kishi, J.; Prockop, D.J. 1989: One mutation that substitutes serine for glycine alpha 1 598 and another mutation that substitutes serine for glycine alpha 1 631 of type i procollagen col1a1 both cause lethal osteogenesis imperfecta but have different effects on the thermal stability of the protein American Journal of Human Genetics 45(4 Suppl): A229
Richards, A.J.; Ward, P.N.; Narcisi, P.; Nicholls, A.C.; Lloyd, J.C.; Pope, F.M. 1992: A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation Human Genetics 89(4): 414-418
Zhao, M.; Kontusaari, S.; Kuivaniemi, H.; Tromp, G.; Sabol, C.; Ala Kokko, L.; Klein, S.A.; Ladda, R.L.; Kousseff, B.G.; Prockop, D.J. 1990: Three single base mutations in type iii procollagen gene that prevent correct rna splicing in variants of ehlers danlos syndrome iv Fleischmajer, R , B R Olsen And K Kuehn (Ed ) Annals Of The New York Academy Of Sciences, Vol 580 Structure, Molecular Biology, And Pathology Of Collagen; Second New York Academy Of Sciences Conference on Collagen, Bethesda, Maryland, Usa, April 3-5, 1989 Xv+592p New York Academy Of Sciences: New York, New York, Usa Illus 554-555
Kuivaniemi, H.; Tromp, G.; Kontusaari, S.; Zhao, M.; Sabol, C.; Stolle, C.; Ladda, R.L.; Kousseff, B.G.; Klein, S.A.; Pope, F.M.; Prockop, D.J. 1989: Four single base mutations in the type iii procollagen gene 2q243 to q31 that cause mild to severe forms of ehlers danlos syndrome iv Cytogenetics and Cell Genetics 51(1-4): 1027
Richards, A.J.; Martin, S.; Nicholls, A.C.; Harrison, J.B.; Pope, F.M.; Burrows, N.P. 1998: A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II Journal of Medical Genetics 35(10): 846-848