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Article

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Journal of human genetics - 1 Jan 2008

Tabata Ayako, Sheng Jian-Sheng, Ushikai Miharu, Song Yuan-Zong, Gao Hong-Zhi, Lu Yao-Bang, Okumura Fumihiko, Iijima Mikio, Mutoh Kozo, Kishida Shosei, Saheki Takeyori, Kobayashi Keiko

Abstract excerpt

Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). So far, we have described 19 SLC25A13 mutations. Here, we report 13 novel SLC25A13 mutations (one insertion, two...

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Identifiers

PMID: 18392553
DOI: 10.1007/s10038-008-0282-2

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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.

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