Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

BACKGROUND AND OBJECTIVE: SLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade. Meanwhile, these studies generated some issues yet to be resolved, including the pathogenicity of SLC25A13 missense mutations and the mRNA product fr...

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Detalles Bibliográficos
Autores principales: Zhang, Zhan-Hui, Lin, Wei-Xia, Deng, Mei, Zhao, Shu-Tao, Zeng, Han-Shi, Chen, Feng-Ping, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931723/
https://www.ncbi.nlm.nih.gov/pubmed/24586645
http://dx.doi.org/10.1371/journal.pone.0089267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931723/
https://www.ncbi.nlm.nih.gov/pubmed/24586645
http://dx.doi.org/10.1371/journal.pone.0089267

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