Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes (Q24324190)

citrulline biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

T Matsuura

1

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R Hoshide

2

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C Setoyama

3

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S Komaki

4

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K Kiwaki

5

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F Endo

6

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S Nishikawa

7

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I Matsuda

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

8

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language of work or name

English

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publication date

February 1994

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published in

Human Genetics

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volume

93

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issue

2

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page(s)

129-34

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Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

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DMA mutagenesis and recombination

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

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An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells

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Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency

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Rapid and efficient site-specific mutagenesis without phenotypic selection

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Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

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The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA.

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Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

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Oligonucleotide-directed mutagenesis using M13-derived vectors: an efficient and general procedure for the production of point mutations in any fragment of DNA.

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Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

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Saturation mutagenesis of the yeast his3 regulatory site: requirements for transcriptional induction and for binding by GCN4 activator protein

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The residues of Ras and Rap proteins that determine their GAP specificities.

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Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

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Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

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Ammonia detoxication in liver from humans

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A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells

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Improved molecular diagnostics for ornithine transcarbamylase deficiency

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SV40-transformed simian cells support the replication of early SV40 mutants

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

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Ornithine carbamoyltransferase (OCT) in the jejunal mucosa, as a reference of the liver OCT

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Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency

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Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene

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Structure of the human ornithine transcarbamylase gene.

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A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites

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