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9. Computational analysis of splicing errors and mutations in human transcripts. Kurmangaliyev YZ; Gelfand MS BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514 [TBL] [Abstract][Full Text] [Related]
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15. Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. Peeters AV; Thiart R; de Villiers JN; Jensen HK; Van Gaal LF; Kotze MJ Mol Cell Probes; 1999 Aug; 13(4):257-60. PubMed ID: 10441197 [TBL] [Abstract][Full Text] [Related]
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17. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Davis RL; Homer VM; George PM; Brennan SO Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456 [TBL] [Abstract][Full Text] [Related]
18. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells. Hennig EE; Conney AH; Wei SJ Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364 [TBL] [Abstract][Full Text] [Related]
19. Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Webb JC; Patel DD; Shoulders CC; Knight BL; Soutar AK Hum Mol Genet; 1996 Sep; 5(9):1325-31. PubMed ID: 8872473 [TBL] [Abstract][Full Text] [Related]
20. Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene. Jensen HK; Jensen LG; Holst HU; Andreasen PH; Hansen PS; Larsen ML; Kølvraa S; Bolund L; Gregersen N; Faergeman O Clin Genet; 1999 Nov; 56(5):378-88. PubMed ID: 10668928 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]