206 related articles for article (PubMed ID: 7557970)
1. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Kobayashi K; Kakinoki H; Fukushige T; Shaheen N; Terazono H; Saheki T
Hum Genet; 1995 Oct; 96(4):454-63. PubMed ID: 7557970
[TBL] [Abstract][Full Text] [Related]
2. Mutations and DNA diagnoses of classical citrullinemia.
Kakinoki H; Kobayashi K; Terazono H; Nagata Y; Saheki T
Hum Mutat; 1997; 9(3):250-9. PubMed ID: 9090528
[TBL] [Abstract][Full Text] [Related]
3. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Kobayashi K; Shaheen N; Terazono H; Saheki T
Am J Hum Genet; 1994 Dec; 55(6):1103-12. PubMed ID: 7977368
[TBL] [Abstract][Full Text] [Related]
4. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
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; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
[TBL] [Abstract][Full Text] [Related]
5. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
Kobayashi K; Jackson MJ; Tick DB; O'Brien WE; Beaudet AL
J Biol Chem; 1990 Jul; 265(19):11361-7. PubMed ID: 2358466
[TBL] [Abstract][Full Text] [Related]
6. Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
Su TS; Lin LH
J Biol Chem; 1990 Nov; 265(32):19716-20. PubMed ID: 2246255
[TBL] [Abstract][Full Text] [Related]
7. Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Kobayashi K; Shaheen N; Terazono H; Saheki T
Am J Hum Genet; 1995 Jan; 56(1):356. PubMed ID: 7825601
[No Abstract] [Full Text] [Related]
8. Additional mutations in argininosuccinate synthetase causing citrullinemia.
Kobayashi K; Rosenbloom C; Beaudet AL; O'Brien WE
Mol Biol Med; 1991 Feb; 8(1):95-100. PubMed ID: 1943692
[TBL] [Abstract][Full Text] [Related]
9. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
Kimani JK; Wei T; Chol K; Li Y; Yu P; Ye S; Huang X; Qi M
Clin Chim Acta; 2015 Jan; 438():323-9. PubMed ID: 25179242
[TBL] [Abstract][Full Text] [Related]
10. Molecular definition of bovine argininosuccinate synthetase deficiency.
Dennis JA; Healy PJ; Beaudet AL; O'Brien WE
Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7947-51. PubMed ID: 2813370
[TBL] [Abstract][Full Text] [Related]
11. Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.
Kobayashi K; Ichiki H; Saheki T; Tatsuno M; Uchiyama C; Nukada O; Yoda T
Hum Genet; 1987 May; 76(1):27-32. PubMed ID: 3570300
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of Korean patients with citrullinemia.
Hong KM; Shin CH; Choi YB; Song WK; Lee SD; Rhee KI; Jang P; Pak GS; Kim JK; Paik MK; Hahn SH
Mol Cells; 2000 Aug; 10(4):465-8. PubMed ID: 10987146
[TBL] [Abstract][Full Text] [Related]
13. Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
Tsai TF; Wu MJ; Su TS
DNA Cell Biol; 1998 Aug; 17(8):717-25. PubMed ID: 9726254
[TBL] [Abstract][Full Text] [Related]
14. Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.
Patejunas G; Bradley A; Beaudet AL; O'Brien WE
Somat Cell Mol Genet; 1994 Jan; 20(1):55-60. PubMed ID: 8197477
[TBL] [Abstract][Full Text] [Related]
15. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Häberle J; Pauli S; Linnebank M; Kleijer WJ; Bakker HD; Wanders RJ; Harms E; Koch HG
Hum Genet; 2002 Apr; 110(4):327-33. PubMed ID: 11941481
[TBL] [Abstract][Full Text] [Related]
16. Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia.
Kobayashi K; Nakata M; Terazono H; Shinsato T; Saheki T
FEBS Lett; 1995 Sep; 372(1):69-73. PubMed ID: 7556646
[TBL] [Abstract][Full Text] [Related]
17. Analysis of deletions at the human argininosuccinate synthetase locus.
Jackson MJ; Kobayashi K; Beaudet AL; O'Brien WE
Mol Biol Med; 1989 Apr; 6(2):179-86. PubMed ID: 2615645
[TBL] [Abstract][Full Text] [Related]
18. Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Shaheen N; Kobayashi K; Terazono H; Fukushige T; Horiuchi M; Saheki T
Enzyme Protein; 1994-1995; 48(5-6):251-64. PubMed ID: 8792870
[TBL] [Abstract][Full Text] [Related]
19. A search for the primary abnormality in adult-onset type II citrullinemia.
Kobayashi K; Shaheen N; Kumashiro R; Tanikawa K; O'Brien WE; Beaudet AL; Saheki T
Am J Hum Genet; 1993 Nov; 53(5):1024-30. PubMed ID: 8105687
[TBL] [Abstract][Full Text] [Related]
20. Messenger RNA coding for argininosuccinate synthetase in citrullinemia.
Kobayashi K; Saheki T; Imamura Y; Noda T; Inoue I; Matuo S; Hagihara S; Nomiyama H; Jinno Y; Shimada K
Am J Hum Genet; 1986 May; 38(5):667-80. PubMed ID: 3459354
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
