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Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population()
Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified in 20–89% of the patients with Alagille syndrome, t...
Autores principales: | Vázquez-Martínez, Edgar Ricardo, Varela-Fascinetto, Gustavo, García-Delgado, Constanza, Rodríguez-Espino, Benjamín Antonio, Sánchez-Boiso, Adriana, Valencia-Mayoral, Pedro, Heller-Rosseau, Solange, Pelcastre-Luna, Erika Lisselly, Zenteno, Juan C., Cerbón, Marco, Morán-Barroso, Verónica Fabiola |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287796/ https://www.ncbi.nlm.nih.gov/pubmed/25606387 http://dx.doi.org/10.1016/j.mgene.2013.10.002 |
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