Article
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.
Human mutation - 1 Feb 2002
Yamaguchi Naoki, Kobayashi Keiko, Yasuda Tomotsugu, Nishi Ikumi, Iijima Mikio, Nakagawa Masanori, Osame Mitsuhiro, Kondo Ikuko, Saheki Takeyori
Abstract excerpt
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult-onset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neonatal hepatitis associated with cholestasis (NICCD). In the present study, we identified a novel mutation, E601X, in...
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