Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13-Reference-Cited by-全球学者库

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13

Published:2021-03 Issue:3 Volume:64 Page:104145
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Lin Wei-Xia^ORCID,Deng Li-Jing,Liu Rui,Qiu Jian-Wu,Cheng Yin,Zhang Zhan-Hui,Chen Feng-Ping,Song Yuan-Zong

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant;Gene;2023-07

2. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis;Journal of Human Genetics;2023-01-04