9 research outputs found

    Clinical features present in carriers of <i>JAG1</i> mutations at the time of hospitalization for neonatal cholestasis and at 3 years of age.

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    <p>* siblings;</p><p>ERCP, endoscopic retrograde cholangiopancreatography; BA, biliary atresia; BA type 3 –gallbladder, cystic duct and common bile duct are patent; BA type 4 –atresia of all the extrahepatic bile ducts; clinical features were present (+) or missing (-),</p><p><sup>#</sup> indicates clinical features not present at the age of 2 months;</p><p>AGS criteria indicate the number of major clinical features (diagnostic criteria) of Alagille syndrome present at the age of 2 months and 3 years, respectively.</p><p>Clinical features present in carriers of <i>JAG1</i> mutations at the time of hospitalization for neonatal cholestasis and at 3 years of age.</p

    Schematic representation of the Jagged1 protein and spliced <i>JAG1</i> mRNA with mutations found in our patients.

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    <p>Schematic representation of the Jagged1 protein and spliced <i>JAG1</i> mRNA with mutations found in our patients.</p

    Mutations in <i>JAG1</i> found in patients with biliary atresia and Alagille syndrome.

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    <p>* siblings;</p><p>AGS, Alagille syndrome; BA, biliary atresia; novel mutations are in <b>bold</b>.</p><p>Mutations in <i>JAG1</i> found in patients with biliary atresia and Alagille syndrome.</p
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