Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
Marchetti
Daniela
D
Lab. Genetica Molecolare, Ospedali Riuniti, Bergamo, Italy. dmarchetti@ospedaliriuniti.bergamo.it
Iascone
M R
MR
Pezzoli
L
L
D016738:Alagille Syndrome / Q000235:genetics*; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002675:Child, Preschool; D003062:Codon; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D000072100:Jagged-1 Protein; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics*; D010641:Phenotype; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D003062:Codon; D018388:Codon, Terminator; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D009711:Nucleotides; D000072099:Serrate-Jagged Proteins