Literature DB >> 25187103

A novel citrin deficiency mutation in a cholestatic infant.

Amanda Ricciuto1, Daniela Buhas.   

Abstract

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Year:  2014        PMID： 25187103     DOI： 10.1097/MPG.0000000000000556

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  3 in total

1.  Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.

Authors:  Wei-Xia Lin; Han-Shi Zeng; Zhan-Hui Zhang; Man Mao; Qi-Qi Zheng; Shu-Tao Zhao; Ying Cheng; Feng-Ping Chen; Wang-Rong Wen; Yuan-Zong Song
Journal:  Sci Rep       Date:  2016-07-11       Impact factor: 4.379

2.  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.

Authors:  Zhan-Hui Zhang; Wei-Xia Lin; Qi-Qi Zheng; Li Guo; Yuan-Zong Song
Journal:  Oncotarget       Date:  2017-08-03

3.  Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.

Authors:  Hui Lin; Jian-Wu Qiu; Yaqub-Muhammad Rauf; Gui-Zhi Lin; Rui Liu; Li-Jing Deng; Mei Deng; Yuan-Zong Song
Journal:  Front Genet       Date:  2019-11-07       Impact factor: 4.599
  3 in total

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