Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance

Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD phenotype in pediatrics; however, knowledge on its genotypic and phenotypic characteristics remains limited. The present study ai...

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Detalles Bibliográficos
Autores principales: ZENG, HAN-SHI, ZHAO, SHU-TAO, DENG, MEI, ZHANG, ZHAN-HUI, CAI, XIANG-RAN, CHEN, FENG-PING, SONG, YUAN-ZONG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199400/
https://www.ncbi.nlm.nih.gov/pubmed/25216257
http://dx.doi.org/10.3892/ijmm.2014.1929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199400/
https://www.ncbi.nlm.nih.gov/pubmed/25216257
http://dx.doi.org/10.3892/ijmm.2014.1929

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