Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

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Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

@zh-tw

2016年论文

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2016年论文

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Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

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Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

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Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

@ast

Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

@en

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Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

@ast

Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

@en

P1476

Altered Pre-mRNA Splicing Caus ...... hydropyrimidinase (DPYS) Gene.

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P2093

André B P Van Kuilenburg

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Chunhua Zhang

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Doreen Dobritzsch

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Judith Meijer

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Tetsuya Ito

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Tomomi Kondo

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Xu Wang

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Yoko Nakajima

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P2860

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

Crystal structure of D-hydantoinase from Bacillus stearothermophilus: insight into the stereochemistry of enantioselectivity

Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity

Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips.

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.

Inborn errors of purine and pyrimidine metabolism.

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.

P31

scholarly article

P356

10.3390/IJMS17010086

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P407

English

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P478

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P577

2016-01-12T00:00:00Z

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P5875

290476715

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P698

26771602

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P932

4730329

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