(Q74127744)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

A Nishiyori

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Yoshino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Y Tananari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Matsuura

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

R Hoshide

5

1 reference

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9 November 2019

I Mastuda

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Mori

7

1 reference

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9 November 2019

H Kato

8

1 reference

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9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S131-3

1 reference

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High-efficiency transformation of mammalian cells by plasmid DNA

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Late-onset ornithine transcarbamylase deficiency in male patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Structure of the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

A general method for rapid site-directed mutagenesis using the polymerase chain reaction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Molecular cloning, characterization and purification of ornithine carbamoyltransferase from Mycobacterium bovis BCG

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

The molecular basis of the sparse fur mouse mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Ornithine transcarbamylase deficiency in male adolescence and adulthood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110144

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110144

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452065%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference