Condition: Alagille Syndrome


rs1568791694 in JAG1 gene and Alagille Syndrome PMID 26076142 2015 JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.