Search Results - "Gräber, Mechthild"

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    Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome by Röpke, Albrecht, Kujat, Annegret, Gräber, Mechthild, Giannakudis, Joannis, Hansmann, Ingo

    Published in Human mutation (01-01-2003)
    “…Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular…”
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    Journal Article
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