Search Results - Feshchenko, Sergej

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    Ehlers-Danlos syndrome type VI : lysyl hydroxylase deficiency due to a novel point mutation (W612C)

    Ehlers-Danlos syndrome type VI : lysyl hydroxylase deficiency due to a novel point mutation (W612C) by BRINCKMANN, J, AGIL, Y, FESHCHENKO, S, KATZER, E, BRENNER, R, KULOZIK, A, KÜGLER, S

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    Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae

    Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae by Feshchenko, Sergej, Brinckmann, Jürgen, Lehmann, Hartwig W., Koch, Hans-Georg, Müller, Peter K., Kügler, Sebastian

    Published in Human mutation
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