Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV

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Veröffentlicht in:	Human molecular genetics 1994-03, Vol.3 (3), p.511-512
Hauptverfasser:	Madhatheri, Swama L., Tromp, Gerard, Gustavson, Karl-Henrik, Kulvanlemi, Helena
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Dermatology DNA Mutational Analysis Ehlers-Danlos Syndrome - genetics Female Glutamates - metabolism Glutamic Acid Glycine - metabolism Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Male Medical sciences Pedigree Phenotype Procollagen - chemistry Procollagen - genetics
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