title: Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.
authors.affiliation: *Servicio de Pediatría †Servicio de Análisis clínicos, Consorcio Hospital General, University of Valencia, Valencia, Spain.
authors.forename: Gemma
authors.initials: G
authors.lastname: Muñoz-Aguilar
authors.forename: Ignacio
authors.initials: I
authors.lastname: Domingo-Triadó
authors.forename: María
authors.initials: M
authors.lastname: Maravall-Llagaria
authors.forename: José J
authors.initials: JJ
authors.lastname: Alcón-Sáez
authors.forename: Raquel
authors.initials: R
authors.lastname: Rodríguez-López
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D000072100:Jagged-1 Protein / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein