Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Abstract excerpt

Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations. They map in the part of the gene encoding the extracellular part of the protein. Fifteen mutations are frameshifts...

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