Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic SLC25A13 mutations, and SLC25A13 analysis provides reliable evidences for NICCD definite diagnosis. However, novel large insertions/deletions in this gene could not be detected just by conventional DNA analys...

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Detalles Bibliográficos
Autores principales: Zhang, Zhan-Hui, Lin, Wei-Xia, Zheng, Qi-Qi, Guo, Li, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675625/
https://www.ncbi.nlm.nih.gov/pubmed/29152073
http://dx.doi.org/10.18632/oncotarget.19901

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675625/
https://www.ncbi.nlm.nih.gov/pubmed/29152073
http://dx.doi.org/10.18632/oncotarget.19901

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