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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Abstract
Swama L. Madhatheri, Gerard Tromp, Karl-Henrik Gustavson, Helena Kulvanlemi; Substitution of glutamic acid for glycine 589 in the triple-helical domain of type