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Year | Number of Results |
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1999 | 1 |
2003 | 1 |
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Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.
Int J Mol Med. 2011 Jul;28(1):33-40. doi: 10.3892/ijmm.2011.653. Epub 2011 Mar 21.
Int J Mol Med. 2011.
PMID: 21424115
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX, Zeng HS, Zhang ZH, Mao M, Zheng QQ, Zhao ST, Cheng Y, Chen FP, Wen WR, Song YZ.
Lin WX, et al.
Sci Rep. 2016 Jul 11;6:29732. doi: 10.1038/srep29732.
Sci Rep. 2016.
PMID: 27405544
Free PMC article.
Clinical Trial.
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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T.
Kobayashi K, et al.
Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667.
Nat Genet. 1999.
PMID: 10369257
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Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T.
Kobayashi K, et al.
Mol Genet Metab. 2003 Nov;80(3):356-9. doi: 10.1016/S1096-7192(03)00140-9.
Mol Genet Metab. 2003.
PMID: 14680984
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