(Q79433876)

English

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

scientific article published on 13 December 2006

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23 December 2019

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene (English)

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23 December 2019

Ronald J A Wanders

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Ronald J A Wanders

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23 December 2019

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Keitaro Yamada

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23 December 2019

Toshiyuki Fukao

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23 December 2019

Gaixiu Zhang

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23 December 2019

Satomi Sakurai

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23 December 2019

Jos P N Ruiter

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23 December 2019

Naomi Kondo

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23 December 2019

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13 December 2006

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23 December 2019

Molecular Genetics and Metabolism

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23 December 2019

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23 December 2019

3

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23 December 2019

291-297

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23 December 2019

Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy

1 reference

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7 January 2021

Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis

1 reference

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7 January 2021

A new case of succinyl-CoA: acetoacetate transferase deficiency

1 reference

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7 January 2021

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

1 reference

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7 January 2021

Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts

1 reference

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7 January 2021

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature

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7 January 2021

Succinyl-CoA:3-ketoacid CoA-transferase deficiency

1 reference

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7 January 2021

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

1 reference

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7 January 2021

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency

1 reference

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7 January 2021

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

1 reference

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7 January 2021

A survey on intron and exon lengths

1 reference

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7 January 2021

Exon recognition in vertebrate splicing

1 reference

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7 January 2021

Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations

1 reference

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7 January 2021

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease

1 reference

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7 January 2021

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

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7 January 2021

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

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7 January 2021

Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues

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7 January 2021

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency

1 reference

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7 January 2021

Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

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7 January 2021

Nuclear export of different classes of RNA is mediated by specific factors

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

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7 January 2021

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

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7 January 2021

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

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7 January 2021

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

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7 January 2021

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum

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7 January 2021

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia

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7 January 2021

Killing the messenger: new insights into nonsense-mediated mRNA decay

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RNA surveillance by nuclear scanning?

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Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

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Hyperketotic states due to inherited defects of ketolysis

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23 December 2019

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23 December 2019

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