1618-26-4

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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

I D Krantz et al.

American journal of human genetics, 62(6), 1361-1369 (1998-06-19)

Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and pancreatic abnormalities. We have recently demonstrated that Jagged1 (JAG1) is the AGS gene. JAG1 encodes a ligand in the

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