Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Background. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a Mendelian disorder arising from biallelic SLC25A13 mutations, and SLC25A13 genetic analysis was indispensable for its definite diagnosis. However, conventional SLC25A13 analysis could not detect all mutations, esp...

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Detalles Bibliográficos
Autores principales: Zheng, Qi-Qi, Zhang, Zhan-Hui, Zeng, Han-Shi, Lin, Wei-Xia, Yang, Heng-Wen, Yin, Zhi-Nan, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835617/
https://www.ncbi.nlm.nih.gov/pubmed/27127784
http://dx.doi.org/10.1155/2016/4124263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835617/
https://www.ncbi.nlm.nih.gov/pubmed/27127784
http://dx.doi.org/10.1155/2016/4124263

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