Alagille syndrome (AGS) is an autosomal dominant disorder characterised by abnormalities of the liver, heart, skeleton, eyes and face. Mutations in the 36Kb long human gene Jagged1 (JAG1) localised on 20p12 have been identified as causal for abnormalities found in AGS. Alagille probe covers the entire JAG1 gene so that all deletions of the gene and larger deletions in the region can be detected.
For Research Use Only. Not for use in diagnostic procedures.
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