Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency

Author:

Zhang Zhan-Hui,Lin Wei-Xia,Deng Mei,Zhao Xin-Jing,Song Yuan-Zong

Funder

Innovation Fund of Jinan University

National Natural Science Foundation of China (NSFC)

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference49 articles.

1. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids;Ben-Shalom;Mol. Genet. Metab.,2002

2. The nonsense-mediated decay RNA surveillance pathway;Chang;Annu. Rev. Biochem.,2007

3. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;den Dunnen;Hum. Mutat.,2000

4. Nomenclature for the description of human sequence variations;den Dunnen;Hum. Genet.,2001

5. Identification of novel SLC25A13 variation/mutations in patients with neonatal intrahepatic cholestasis caused by Citrin deficiency;Deng,2011

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