(Q57563225)

English

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

article by J. A. Arranz et al published 1 March 2007 in Journal of Inherited Metabolic Disease

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scholarly article

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Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential (English)

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Clara Marco-Marín

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C. Marco-Marín

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V. Rubio

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author name string

J. A. Arranz

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E. Riudor

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publication date

1 March 2007

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Journal of Inherited Metabolic Disease

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30

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2

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217-226

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https://scigraph.springernature.com/pub.10.1007/s10545-007-0429-x

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Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia

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https://api.crossref.org/works/10.1007%2FS10545-007-0429-X

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Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype

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Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms

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Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum

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Human non-synonymous SNPs: server and survey

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Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

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Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity

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A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

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Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

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Improved methods for building protein models in electron density maps and the location of errors in these models

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Seven new mutations in the human ornithine transcarbamylase gene

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Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

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Crystal structure at 2.8 A resolution of anabolic ornithine transcarbamylase from Escherichia coli

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Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia

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Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency

1 reference

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Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

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Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

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Recent changes to RasMol, recombining the variants

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Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult

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Raster3D Version 2.0. A program for photorealistic molecular graphics

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SNPs, protein structure, and disease.

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Neonatal screening by DNA microarray: spots and chips

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Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17334707

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Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17334707

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

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https://pubmed.ncbi.nlm.nih.gov/17334707

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Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

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Neonatal hemoglobinopathy screening: molecular genetic technologies

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Microarray analysis in cystic fibrosis

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SIFT: Predicting amino acid changes that affect protein function

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Four new mutations in the ornithine transcarbamylase gene

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Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution

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https://pubmed.ncbi.nlm.nih.gov/17334707

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Mutations and polymorphisms in the human ornithine transcarbamylase gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17334707

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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

1 reference

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Structure of the human ornithine transcarbamylase gene.

1 reference

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1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency

1 reference

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10.1007/S10545-007-0429-X

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