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    Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

    Heterozygous mutations in JAGGED1 (JAG1), encoding a ligand for Notch receptors, have been identified in patients with Alagille syndrome (AGS). These mutations map to the extracellular and transmembrane domains o...

    Julie Boyer, Cécile Crosnier, Catherine Driancourt, Nicole Raynaud in Human Genetics (2005)