(Q35200746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

title

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

author name string

R L Nussbaum

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

B A Boggs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

A L Beaudet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

S Doyle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

J L Potter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

W E O'Brien

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

language of work or name

English

0 references

publication date

1 February 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

page(s)

149-158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

8 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765

Carrier detection in ornithine transcarbamylase deficiency

13 July 2018

1 reference

12 December 2020

Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl 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

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

1 reference