64 related articles for article (PubMed ID: 9403062)
1. Aberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice.
Lee FK; Chung SK; Chung SS
Genomics; 1997 Nov; 46(1):86-92. PubMed ID: 9403062
[TBL] [Abstract][Full Text] [Related]
2. Effects of sorbitol dehydrogenase deficiency on nerve conduction in experimental diabetic mice.
Ng TF; Lee FK; Song ZT; Calcutt NA; Lee AY; Chung SS; Chung SK
Diabetes; 1998 Jun; 47(6):961-6. PubMed ID: 9604875
[TBL] [Abstract][Full Text] [Related]
3. Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA.
Hinsdale ME; Kelly CL; Wood PA
Genomics; 1993 Jun; 16(3):605-11. PubMed ID: 8325633
[TBL] [Abstract][Full Text] [Related]
4. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
Zhang DL; Ji L; Li YD
Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
[TBL] [Abstract][Full Text] [Related]
5. Polyol pathway in human epididymis and semen.
Frenette G; Thabet M; Sullivan R
J Androl; 2006; 27(2):233-9. PubMed ID: 16278369
[TBL] [Abstract][Full Text] [Related]
6. Identification and characterisation of a sequence related to human sorbitol dehydrogenase.
Carr IM; Markham AF; Coletta PL
Eur J Biochem; 1997 May; 245(3):760-7. PubMed ID: 9183016
[TBL] [Abstract][Full Text] [Related]
7. Cloning, sequencing, and determination of the sites of expression of mouse sorbitol dehydrogenase cDNA.
Lee FK; Lee AY; Lin CX; Chung SS; Chung SK
Eur J Biochem; 1995 Jun; 230(3):1059-65. PubMed ID: 7601136
[TBL] [Abstract][Full Text] [Related]
8. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.
Graw J; Jung M; Löster J; Klopp N; Soewarto D; Fella C; Fuchs H; Reis A; Wolf E; Balling R; Hrabé de Angelis M
Genomics; 1999 Nov; 62(1):67-73. PubMed ID: 10585769
[TBL] [Abstract][Full Text] [Related]
9. An IL-7 splicing-defect lymphopenia mouse model revealed by genome-wide mutagenesis.
Huang HW; Chiang YJ; Hung SI; Li CL; Yen JJ
J Biomed Sci; 2007 Mar; 14(2):169-81. PubMed ID: 17151827
[TBL] [Abstract][Full Text] [Related]
10. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
11. Aberrant splicing of Hugl-1 is associated with hepatocellular carcinoma progression.
Lu X; Feng X; Man X; Yang G; Tang L; Du D; Zhang F; Yuan H; Huang Q; Zhang Z; Liu Y; Strand D; Chen Z
Clin Cancer Res; 2009 May; 15(10):3287-96. PubMed ID: 19447873
[TBL] [Abstract][Full Text] [Related]
12. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
Lee PL; Gelbart T; West C; Halloran C; Beutler E
Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
[TBL] [Abstract][Full Text] [Related]
13. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
[TBL] [Abstract][Full Text] [Related]
14. Developmentally regulated muscle type-specific alternative splicing of the COOH-terminal variable region of fast skeletal muscle troponin T and an aberrant splicing pathway to encode a mutant COOH-terminus.
Jin JP; Wang J; Ogut O
Biochem Biophys Res Commun; 1998 Jan; 242(3):540-4. PubMed ID: 9464252
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
[TBL] [Abstract][Full Text] [Related]
16. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
D'Andrea G; Di Perna P; Brancaccio V; Faioni EM; Castaman G; Cibelli G; Di Minno G; Margaglione M;
Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
[TBL] [Abstract][Full Text] [Related]
17. Membrane-bound sorbitol dehydrogenase in human red blood cells. Studies in normal subjects and in enzyme-deficient subjects with congenital cataracts.
Alvarez A; Martínez A; Ibarra B; Medina C; Bracamontes M; Perea J; Vaca G
J Inherit Metab Dis; 1993; 16(1):67-72. PubMed ID: 8487505
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
19. Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
Wijk R; van Wesel AC; Thomas AA; Rijksen G; van Solinge WW
Br J Haematol; 2004 Apr; 125(2):253-63. PubMed ID: 15059150
[TBL] [Abstract][Full Text] [Related]
20. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
