The association of nonsense codons with exon skipping (Q77525539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

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title

The association of nonsense codons with exon skipping (English)

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6 December 2019

C R Valentine

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6 December 2019

language of work or name

English

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publication date

1 September 1998

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6 December 2019

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6 December 2019

volume

411

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issue

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6 December 2019

page(s)

87-117

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The skipping of constitutive exons in vivo induced by nonsense mutations

6 December 2019

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A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

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A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients

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A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.

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Novel mutational spectrum induced by N-methyl-N'-nitro-N-nitrosoguanidine in the coding region of the hypoxanthine (guanine) phosphoribosyltransferase gene in diploid human fibroblasts

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Low hprt mRNA levels and multiple hprt mRNA species in 6-thioguanine-resistant Chinese hamster cell mutants possessing nonsense mutations.

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Defective splicing induced by 4NQO in the hamster hprt gene

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Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.

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Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

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Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

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Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

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Molecular spectrum of background mutation at the hprt locus in human T-lymphocytes

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Dystrophin gene transcripts skipping the mdx mutation

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Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?

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7 January 2021

10.1016/S1383-5742(98)00010-6

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6 December 2019

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