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Article

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

Molecular genetics and metabolism - 1 Apr 2012

Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto Osamu, Matsubara Yoichi, Saheki Takeyori, Kobayashi Keiko, Ohura Toshihro, Kure Shigeo

Abstract excerpt

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency. The clinical appearance of these diseases is variable, ranging from almo...

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Source

Identifiers

PMID: 22277121
DOI: 10.1016/j.ymgme.2011.12.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22277121-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.PMID 22277121Read ↗

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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.Semantic proximity Read ↗

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

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