Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 230

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.

PMID:
7557970
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.

PMID:
9090528
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. Erratum in: Am J Hum Genet. 1995 Jan;56(1):356.

4.

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 5;265(19):11361-7.

6.

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.

PMID:
12815590
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. No abstract available.

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.

PMID:
1943692
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 1;438:323-9. doi: 10.1016/j.cca.2014.08.028. Epub 2014 Aug 30.

PMID:
25179242
11.

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

Lai LW, Whitehair O, Wu MJ, O'Meara M, Lien YH.

Clin Genet. 2003 Jun;63(6):476-82.

PMID:
12786754
13.

Haplotype and mutation analysis in Japanese patients with Wilson disease.

Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, Anezaki T, Cox DW.

Am J Hum Genet. 1997 Jun;60(6):1423-9.

14.

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.

15.

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS.

Am J Hum Genet. 2002 Sep;71(3):451-65. Epub 2002 Jul 17.

16.

A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.

Hamaguchi T, Nakajima H, Noguchi T, Ono A, Kono N, Tarui S, Kuwajima M, Matsuzawa Y.

Biochem Biophys Res Commun. 1994 Jul 15;202(1):444-9.

PMID:
7518679
18.

Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells.

Carothers AM, Urlaub G, Grunberger D, Chasin LA.

Mol Cell Biol. 1993 Aug;13(8):5085-98.

19.

Four novel PEPD alleles causing prolidase deficiency.

Ledoux P, Scriver C, Hechtman P.

Am J Hum Genet. 1994 Jun;54(6):1014-21.

20.

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

Buesa C, Pié J, Barceló A, Casals N, Mascaró C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG.

J Lipid Res. 1996 Nov;37(11):2420-32.

Supplemental Content

Support Center