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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...

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Dettagli Bibliografici
Pubblicato in:Meta Gene
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287796/
https://ncbi.nlm.nih.gov/pubmed/25606387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2013.10.002
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