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Article

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.

Journal of gastroenterology - 1 Apr 2011

Fu Hai-Yan, Zhang Shao-Ren, Wang Xiao-Hong, Saheki Takeyori, Kobayashi Keiko, Wang Jian-She

Abstract excerpt

BACKGROUND: SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Information on the mutation spectrum of SLC25A13 in the Chinese population is limited. The aim of this study was to explore the mutation spectrum of t...

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Source

Identifiers

PMID: 20927635
DOI: 10.1007/s00535-010-0329-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20927635-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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