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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Zhang, Zhan-Hui, Lin, Wei-Xia, Deng, Mei, Zhao, Shu-Tao, Zeng, Han-Shi, Chen, Feng-Ping, Song, Yuan-Zong
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3931723/
https://ncbi.nlm.nih.gov/pubmed/24586645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0089267
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados