(Q57563290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families (English)

1 reference

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18 October 2019

4

1 reference

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Miguel Ángel García Pérez

18 October 2019

1 reference

ORCID Public Data File 2021

author name string

M Tuchman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

R J Plante

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M A Garcia-Perez

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

publication date

1 March 1996

1 reference

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18 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

volume

97

1 reference

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18 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

page(s)

274-276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02185751

18 October 2019

exact match

0 references

cites work

Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum

1 reference

12 December 2020

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

1 reference

12 December 2020

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

12 December 2020

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

1 reference

12 December 2020

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

12 December 2020

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

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

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02185751

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786061%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference