Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency (Q24322574)

GOA release 2020-03-11

ammonium homeostasis

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GOA release 2020-03-11

author name string

I Matsuda

1

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A Hata

2

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T Matsuura

3

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T Tsuzuki

4

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K Shimada

DNA analysis of ornithine transcarbamylase deficiency

5

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language of work or name

English

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publication date

15 December 1989

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published in

Clinica Chimica Acta

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volume

185

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issue

3

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page(s)

283-9

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cites work

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

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Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

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Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency

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Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency

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

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Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

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Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

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Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy

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Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region

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Structure of the human ornithine transcarbamylase gene.

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

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Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

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Family studies in ornithine transcarbamylase deficiency

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