Author:
Oh Seak Hee,Lee Beom Hee,Kim Gu-Hwan,Choi Jin-Ho,Kim Kyung Mo,Yoo Han-Wook
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R. et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 22, 159–163 (1999).
2. Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O. et al. Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 108, 87–90 (2001).
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. 138, 735–740 (2001).
4. Saheki, T. & Kobayashi, K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 47, 333–341 (2002).
5. Kobayashi, K., Saheki, T. & Song, Y. Z. in GeneReviews(R) (eds Pagon, R. A., Adam, M. P., Ardinger, H. H., Wallace, S. E., Amemiya, A. & Bean, L. J. H.) (University of Washington, Seattle, WA, 1993).
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