(Q73298339)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

ornithine carbamoyltransferase deficiency

2 November 2019

main subject

0 references

author name string

S Genet

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Cranston

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H R Middleton-Price

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 November 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

669-676

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117428%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005614409241

2 November 2019

exact match

0 references

cites work

A simple, efficient method for the separate isolation of RNA and DNA from the same cells

1 reference

12 December 2020

Proportions of spontaneous mutations in males and females with 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

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations

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 R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

1 reference

12 December 2020

Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site

1 reference

12 December 2020

Improved molecular diagnostics for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Estimated frequency of urea cycle enzymopathies in Japan

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