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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Meta Gene
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2013
Aiheet:
Article
Linkit: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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