(Q24515023)

20 October 2023

P Rutland

series ordinal

2

author given names

P

author last names

Rutland

1 reference

20 October 2023

S Malcolm

series ordinal

3

author given names

S

author last names

Malcolm

1 reference

Journal of Medical Genetics

20 October 2023

language of work or name

English

0 references

publication date

December 1991

0 references

published in

0 references

volume

28

0 references

issue

12

0 references

page(s)

871-4

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

A rapid method for the purification of DNA from blood

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

Molecular pathology of haemophilia B

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

Structure of the human ornithine transcarbamylase gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

CpG dinucleotides are mutation hot spots in phenylketonuria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017166

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.12.871

0 references

Fatcat ID

release_ar4vkngysjb5pebcfgwso2clz4

0 references

PMC publication ID

1017166

0 references