Gene symbol: JAG1. Disease: Alagille syndrome.
Azienda Ospedaliero-Universitaria Pisana, U.O.Citogenetica e Genetica Molecolare, Pisa, Roma, 67, 56100 Pisa, Italy. elena_conidi@yahoo.it
Maria Elena
ME
Conidi
Angela
A
Michelucci
Giuseppe
G
Maggiore
Paolo
P
Simi
D016738:Alagille Syndrome / Q000235:genetics*; D019943:Amino Acid Substitution; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D005091:Exons; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D003062:Codon; D018389:Codon, Nonsense; D018388:Codon, Terminator; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins