The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology
Link
http://link.springer.com/content/pdf/10.1007/s00535-010-0329-y.pdf
Reference41 articles.
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2. Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, et al. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 2001;20:5060–9.
3. Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, et al. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J Pediatr. 2001;138:735–40.
4. Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, et al. 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. Hum Mutat. 2002;19:122–30.
5. Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, et al. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr. 2001;138:741–3.
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