Article
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
Human mutation - 1 Dec 2002
Heritage Mandy L, MacMillan John C, Anderson Gregory J
Abstract excerpt
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene have been found to result in the AGS phenotype. Using denaturing high performance liquid chromatography (DHPLC) mutation analysis we have screened 20 individuals with symptoms of AGS from 14 families for mutations within Jagged1. Eleven...
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