Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. (Q52880627)

9 May 2018

title

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

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9 May 2018

author name string

E O Oppliger Leibundgut

1

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9 May 2018

S Liechti-Gallati

2

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9 May 2018

J P Colombo

3

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9 May 2018

B Wermuth

4

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9 May 2018

publication date

1 February 1995

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9 May 2018

published in

Human Genetics

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9 May 2018

volume

95

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9 May 2018

issue

2

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9 May 2018

page(s)

191-196

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9 May 2018

https://scigraph.springernature.com/pub.10.1007/bf00209400

exact match

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cites work

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

1 reference

12 December 2020

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency

1 reference

12 December 2020

Site specific screening for point mutations in ornithine transcarbamylase deficiency

1 reference

12 December 2020

Isolation of genomic DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

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].

1 reference

12 December 2020

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency

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12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

1 reference

12 December 2020

Improved molecular diagnostics for ornithine transcarbamylase deficiency

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12 December 2020

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

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12 December 2020

Four new mutations in the ornithine transcarbamylase gene

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12 December 2020

Direct and Indirect Mutation Analyses in Patients with Ornithine Transcarbamylase Deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure of the human ornithine transcarbamylase gene.

1 reference

12 December 2020

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00209400

1 reference

9 May 2018

release_rkghkwzaafdtbamx5yczqpun6q

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rkghkwzaafdtbamx5yczqpun6q

24 November 2022

mapped directly with Wikidata item

PubMed ID

7860066

1 reference

9 May 2018