Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
about
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaIn silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.Genomic features defining exonic variants that modulate splicing.Variation in the HLA-G promoter region influences miscarriage rates.Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African AmericansInterpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneityPropionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNAXeroderma pigmentosum-variant patients from America, Europe, and Asia.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.Clinical variability of isovaleric acidemia in a genetically homogeneous population.Convergent evolution of a 2-methylbutyryl-CoA dehydrogenase from isovaleryl-CoA dehydrogenase in Solanum tuberosum.Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
P2860
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P2860
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
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2000年學術文章
@zh-hant
name
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@en
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@nl
type
label
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@en
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@nl
prefLabel
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@en
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@nl
P2093
P2860
P356
P1476
Exon skipping in IVD RNA proce ...... coding region of the IVD gene.
@en
P2093
B D Anderson
R S Seelan
P2860
P304
P356
10.1086/302751
P407
P577
2000-02-01T00:00:00Z