Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.

The Tohoku journal of experimental medicine - 1 Aug 2014

Zhang Zhan-Hui, Yang Zhi-Gang, Chen Feng-Ping, Kikuchi Atsuo, Liu Zhen-Huan, Kuang Li-Zhen, Li Wei-Ming, Song Yuan-Zong, Kure Shigeo, Saheki Takeyori

Abstract excerpt

Citrin is the liver-type aspartate/glutamate carrier isoform 2 (AGC2) encoded by SLC25A13 gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin deficiency (CD) has proven a disease entity with high prevalence in south China, including Guangdong with the largest population, but CD epidemiology in this province has not been well characterized. This study aims to screen for five...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Citrullinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Geography

Share to Heterozygote

Share to Mitochondrial Membrane Transport Proteins

Share to Molecular Epidemiology

Share to Nucleic Acid Denaturation

Source

Identifiers

PMID: 25110155
DOI: 10.1620/tjem.233.275

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.PMID 25110155Read ↗

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Semantic proximity Read ↗

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.Semantic proximity Read ↗

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.Semantic proximity Read ↗

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.Semantic proximity Read ↗

[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].Semantic proximity Read ↗

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.Semantic proximity Read ↗

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.Semantic proximity Read ↗

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.Semantic proximity Read ↗

Citrin deficiency-The East-side story.Semantic proximity Read ↗

SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.Semantic proximity Read ↗

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.Semantic proximity Read ↗

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.