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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Madhatheri SL, Tromp G, Gustavson KH, Kuivaniemi H
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.
Hum Mol Genet. 1994 Mar;3(3):511-2.
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- 7912131 [ View in PubMed]
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