(Q57563300)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

Miguel Ángel García Pérez

27 October 2019

author

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Vicente Rubio

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

P Sanjurjo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

publication date

1 February 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

95

1 reference

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27 October 2019

issue

2

1 reference

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27 October 2019

page(s)

183-186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00209398

27 October 2019

exact match

0 references

cites work

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing

1 reference

12 December 2020

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification

1 reference

12 December 2020

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

1 reference

12 December 2020

Carbamoyl phosphate synthetase, ornithine transcarbamylase, and aspartate transcarbamylase activities in the pea ovary : changes with senescence of the unpollinated ovary or with fruit set induced by gibberellic Acid.

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

Import and processing of hybrid proteins by mammalian mitochondria in vitro

1 reference

12 December 2020

Efficient DNA isolation within a single gel barrier tube

1 reference

12 December 2020

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

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

The molecular basis of the sparse fur mouse mutation

1 reference

12 December 2020

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

12 December 2020

Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene

1 reference

12 December 2020

Improved molecular diagnostics for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency

1 reference

12 December 2020

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

12 December 2020

Compared expression levels of ornithine transcarbamylase and carbamylphosphate synthetase in liver and small intestine of normal and mutant mice

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

Identifiers

DOI

10.1007/BF00209398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860064%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference