A novel JAG1 mutation in a patient with Alagille's syndrome.
Wang
Ying
Y
Yu
Yongguo
Y
Wang
Jian
J
Tsuei
Sian Hsiang-Te
SH
Zaho
Li
L
Fu
Qihua
Q
D000015:Abnormalities, Multiple / Q000235:genetics; D016738:Alagille Syndrome / Q000235:genetics* / Q000473:pathology; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins