SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Author:

Song Yuan-Zong,Zhang Zhan-Hui,Lin Wei-Xia,Zhao Xin-Jing,Deng Mei,Ma Yan-Li,Guo Li,Chen Feng-Ping,Long Xiao-Ling,He Xiang-Ling,Sunada Yoshihide,Soneda Shun,Nakatomi Akiko,Dateki Sumito,Ngu Lock-Hock,Kobayashi Keiko,Saheki Takeyori

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference51 articles.

1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;K Kobayashi;Nat Genet,1999

2. Kobayashi K, Saheki T, Song YZ. Citrin Deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2005 Sep 16 [Updated 2012 Jan 05].

3. Neonatal presentation of adult-onset type II citrullinemia;T Ohura;Hum Genet,2001

4. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia;Y Tazawa;J Pediatr,2001

5. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy;T Tomomasa;J Pediatr,2001

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