Found: 13
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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 680, doi. 10.1007/s00439-005-0070-4
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- Publication type:
- Article
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe.
- Published in:
- Human Heredity, 1993, v. 43, n. 6, p. 342, doi. 10.1159/000154157
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- Article
Absence of an Intron Splicing Silencer in Porcine <i>Smn1</i> Intron 7 Confers Immunity to the Exon Skipping Mutation in Human <i>SMN2</i>.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098841
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- Article
Identification of Six Novel <i>PTH1R</i> Mutations in Families with a History of Primary Failure of Tooth Eruption.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074601
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- Article
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030050
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- Article
Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 11, p. 6332, doi. 10.1093/nar/gkac482
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- Article
DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 13, p. 7099, doi. 10.1093/nar/gkaa530
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- Publication type:
- Article
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 1, p. 395, doi. 10.1093/nar/gkw731
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- Publication type:
- Article
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 9, p. 4627, doi. 10.1093/nar/gkv275
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- Article
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S213, doi. 10.1007/PL00014406
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- Publication type:
- Article
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 220, doi. 10.1002/humu.21419
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- Publication type:
- Article
The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 695, doi. 10.1093/hmg/6.5.695
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- Publication type:
- Article
Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 461, doi. 10.1093/hmg/5.4.461
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- Article