title: Novel human pathological mutations. Gene symbol: JAG1. Disease: Allagille syndrome.
authors.affiliation: Medical Genetics, Mayo Clinic, Rochester, 55905, USA. ellison.jay@mayo.edu
authors.forename: Jay
authors.initials: J
authors.lastname: Ellison
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D003062:Codon; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D003062:Codon; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D009711:Nucleotides; D000072099:Serrate-Jagged Proteins