(Q24317069)

GOA release 2020-03-11

zinc ion binding

1 reference

GOA release 2020-03-11

5

A Fischer

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author name string

I Santisteban

1

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F X Arredondo-Vega

2

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S Kelly

3

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M Debre

4

0 references

J L Pérignon

6

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B Hilman

7

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J elDahr

8

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D H Dreyfus

9

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E W Gelfand

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

10

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language of work or name

English

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publication date

1995

0 references

published in

Human Mutation

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volume

5

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page(s)

243-50

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issue

3

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

The Protein Data Bank: a computer-based archival file for macromolecular structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Hot spot mutations in adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

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/10.1002%2FHUMU.1380050309

7 January 2021

Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Sequence of human adenosine deaminase cDNA including the coding region and a small intron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

A pre-transition-state mimic of an enzyme: X-ray structure of adenosine deaminase with bound 1-deazaadenosine and zinc-activated water

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050309

7 January 2021