| 1 | ASS1, CTLN1
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| Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
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| Kimani JK, Wei T, Chol K, Li Y, Yu P, Ye S, Huang X, Qi M.
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| Clin Chim Acta lin Chim Acta. 2014 Aug 30. pii: S0009-8981(14)00380-5. doi: 10.1016/j.cca.2014.08.028. [Epub ahead of print]
2014
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| 2 | ASS1, CTLN1
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| Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
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| Engel K, Höhne W, Häberle J.
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| Hum Mutat 30(3):300-7. Review.
2009
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| 3 | ASS1, CTLN1
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| Involvement of c-myc-regulated genes in hepatocellular carcinoma related to genotype-C hepatitis B virus.
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| Iizuka N, Tsunedomi R, Tamesa T, Okada T, Sakamoto K, Hamaguchi T, Yamada-Okabe H, Miyamoto T, Uchimura S, Hamamoto Y, Oka M.
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| J Cancer Res Clin Oncol 132(7):473-81. Epub 2006 Apr 25. 2006
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| 4 | ASS1, CTLN1
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| Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
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| Wasant P, Viprakasit V, Srisomsap C, Liammongkolkul S, Ratanarak P, Sathienkijakanchai A, Svasti J.
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| Southeast Asian J Trop Med Public Health 36(3):757-61. 2005
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| 5 | ASS1, CTLN1
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| Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
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| Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodes M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T.
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| Hum Mutat 22(1):24-34. 2003
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| 6 | ASS1, CTLN1
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| Glutamine stimulates argininosuccinate synthetase gene expression through cytosolic O-glycosylation of Sp1 in Caco-2 cells.
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| Brasse-Lagnel C, Fairand A, Lavoinne A, Husson A.
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| J Biol Chem 278(52):52504-10. Epub 2003 Oct 21. 2003
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| 7 | CTLN1
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| Mutations and DNA diagnoses of classical citrullinemia.
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| Kakinoki H, et al.
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| Hum Mutat 9 : 250-259. 1997
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| 8 | CTLN1
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| Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
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| Kobayashi K, et al.
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| Hum Genet 96 : 454-463. 1995
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| 9 | CTLN1
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| Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
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| Kobayashi K, et al.
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| Am J Hum Genet 55 : 1103-1112. 1994
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| 10 | CTLN1
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| A search for the primary abnormality in adult-onset type II citrullinemia.
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| Kobayashi K, et al.
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| Am J Hum Genet 53 : 1024-1030. 1993
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| 11 | CTLN1
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| A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34.
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| Henske EP, et al.
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| Genomics 13 : 841-844. 1992
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| 12 | CTLN1
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| Argininosuccinate synthetase gene expression in leukemias : potential diagnostic marker for blastic crisis of chronic myelocytic leukemia.
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| Ohno T, et al.
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| Leuk Res 16 : 475-483. 1992
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| 13 | CTLN1
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| Elevated gene expression of argininosuccinate synthetase in peripheral lymphocytes from systemic lupus erythematosus (SLE) patients.
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| Ohno T, et al.
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| Autoimmunity 13 : 127-132. 1992
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| 14 | CTLN1
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| Additional mutations in argininosuccinate synthetase causing citrullinemia.
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| Kobayashi K, et al.
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| Mol Biol Med 8 : 95-100. 1991
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| 15 | CTLN1, DYT1, GSN, TOR1A
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| Highly informative (GT)n polymorphisms from 9q32-34 permit creation of a high resolution map and delineation of a region likely to contain genes for torsion dystonia (DYT1), tuberous sclerosis (TSC1), and nail-patella syndrome (NPS1).
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| Kwiatkowski DJ, et al.
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| Am J Hum Genet 47 : A187. 1990
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| 16 | CTLN1
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| Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
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| Su TS, et al.
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| J Biol Chem 265 : 19716-19720. 1990
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| 17 | CTLN1
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| CA repeat polymorphism at the ASS locus.
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| Yuille MAR, et al.
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| Nucleic Acids Res 18 : 7472. 1990
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| 18 | CTLN1
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| Multilocus linkage analysis with the human argininosuccinate synthetase gene.
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| Northrup H, et al.
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| Genomics 5 : 442-444. 1989
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| 19 | CTLN1
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| Analysis of deletions at the human argininosuccinate synthetase locus.
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| Jackson MJ, et al.
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| Mol Biol Med 6 : 179-186. 1989
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| 20 | ASS1, CTLN1
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| The human argininosuccinate synthetase locus and citrullinemia.
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| Beaudet AL, et al.
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| Adv Hum Genet 15 : 161-192 and 291-292. 1986
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| 21 | OTC, CPS1, ARG1, ASL, CTLN1
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| Mammalian urea cycle enzymes.
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| Jackson MJ, et al.
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| Annu Rev Genet 20 : 431-464. 1986
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| 22 | ACO1, AK1, CTLN1, GALT
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| Regional assignment of GALT, AK-1, AC0-1, and ASS on chromosome 9.
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| Mattei MG, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 533. 1984
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| 23 | CTLN1, ASSP3, ASSP11, ASSP12
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| Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).
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| Daiger SP, et al.
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| Am J Hum Genet 36 : 736-749. 1984
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| 24 | CTLN1
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| Structure and molecular organization of the human argininosuccinate synthetase gene family.
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| Freitag SO, et al.
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| Am J Hum Genet 34 : 160A. 1982
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| 25 | CTLN1, ASSP3, ASSP6, ASSP12
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| Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.
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| Daiger SP, et al.
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| Nature 298 : 682-684. 1982
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| 26 | AK3L2, CTLN1, ACO1, AK3, AK3L1
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| Regional assignments of the loci AK3, ACONs, and ASS on human chromosome 9.
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| Carritt B, et al.
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| Cytogenet Cell Genet 23 : 171-181. 1979
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| 27 | CTLN1
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| Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster X human somatic cell hybrids.
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| Carritt B, et al.
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| Exp Cell Res 7106 : 71-78. 1977
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| 28 | CTLN1
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| Citrullinuria, a new aminoaciduria associated with mental retardation.
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| McMurray WC, et al.
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| Lancet I : 138. 1962
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