JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical features...

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Detalles Bibliográficos
Autores principales: Li, Liting, Dong, Jibin, Wang, Xiaohong, Guo, Hongmei, Wang, Huijun, Zhao, Jing, Qiu, Yiling, Abuduxikuer, Kuerbanjiang, Wang, Jianshe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489410/
https://www.ncbi.nlm.nih.gov/pubmed/26076142
http://dx.doi.org/10.1371/journal.pone.0130355

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