(Q34211844)

English

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

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

10.1002/HUMU.1380010214

https://api.crossref.org/works/10.1002/HUMU.1380010214

23 November 2023

exchange transfusion

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284479

9 September 2022

1 reference

10.1002/HUMU.1380010214

https://api.crossref.org/works/10.1002/HUMU.1380010214

23 November 2023

author name string

Hirschhorn R

1

1 reference

Europe PubMed Central

31 July 2017

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1284479

9 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

31 July 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380010214

1 reference

10.1002/HUMU.1380010214

https://api.crossref.org/works/10.1002/HUMU.1380010214

23 November 2023

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380010214

1 reference

10.1002/HUMU.1380010214

https://api.crossref.org/works/10.1002/HUMU.1380010214

23 November 2023

1 reference

Europe PubMed Central

31 July 2017

1

1 reference

Europe PubMed Central

31 July 2017

166-168

1 reference

Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

Progress toward gene therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

Hot spot mutations in adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010214

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380010214

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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