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Article

[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2007

Song Yuan-Zong, Ushikai Miharu, Sheng Jian-sheng, Iijima Mikio, Kobayashi Keiko

Abstract excerpt

OBJECTIVE: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, MIM#605814) is an inherited metabolic disease resulting from mutations of the gene SLC25A13, which encodes citrin, a liver-type mitochondrial aspartate-glutamate carrier. Mutation analysis is necessary for definitive...

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PMID: 17880783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17880783-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].PMID 17880783Read ↗

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