Associated Papers
Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.
Adams JM et al.
Hepatology (baltimore, Md.), 2020
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin E et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
Eggermann T
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.
Niazi G et al.
Human Genetics, 2009
PTPN11 mutations play a minor role in isolated congenital heart disease.
Weismann CG et al.
American Journal of Medical Genetics. Part A, 2005
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP et al.
Human Mutation, 2001
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