(Q71167703)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

adenosine deaminase deficiency

16 October 2019

main subject

1 reference

Hirschhorn R

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Yang DR

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Puck JM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Huie ML

4

1 reference

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16 October 2019

Jiang CK

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Kurlandsky LE

6

1 reference

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16 October 2019

publication date

1 July 1996

1 reference

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16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

13

1 reference

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16 October 2019

page(s)

290-295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0796-290

16 October 2019

exact match

0 references

cites work

Adenosine deaminase deficiency: molecular basis and recent developments

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Adult presentation of adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Genetic mosaicism: what Gregor Mendel didn't know

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Hot spot mutations in adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0796-290

7 January 2021

Identifiers

DOI

10.1038/NG0796-290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8673127%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference