(Q34601164)

3 August 2017

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

1 reference

ornithine carbamoyltransferase deficiency

3 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

1 reference

8 November 2022

6

Munnich A

1 reference

3 August 2017

2

A. Pelet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

author name string

D. Hentzen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

D. Feldman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

D. Rabier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

J. Berthelot

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1721894

8 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1721894

8 November 2022

publication date

1 December 1991

1 reference

full work available at URL

3 August 2017

http://link.springer.com/content/pdf/10.1007/BF00206063.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00206063/fulltext.html

8 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00206063

8 November 2022

1 reference

8 November 2022

1 reference

3 August 2017

88

1 reference

3 August 2017

153-156

1 reference

3 August 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00206063

3 August 2017

0 references

cites work

Mammalian urea cycle enzymes

1 reference

12 December 2020

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

1 reference

12 December 2020

Carrier detection in a partially dominant X-linked disease: 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

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

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

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

Structure of the human ornithine transcarbamylase gene.

1 reference

12 December 2020

Molecular detection and correction of ornithine transcarbamylase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206063

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference