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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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Библиографические подробности
Опубликовано в: :Meta Gene
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2013
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Online-ссылка: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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