(Q30443770)

English

A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8898377%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8898377%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

S J Kornfeld

1

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20 October 2019

R N Haire

2

1 reference

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20 October 2019

S J Strong

3

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20 October 2019

H Tang

4

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20 October 2019

S S Sung

5

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20 October 2019

S M Fu

6

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20 October 2019

G W Litman

7

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20 October 2019

language of work or name

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publication date

1 September 1996

1 reference

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20 October 2019

Molecular Medicine

1 reference

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20 October 2019

2

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20 October 2019

5

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20 October 2019

619-623

1 reference

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20 October 2019

Agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Discordant phenotype in siblings with X-linked agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Molecular and cellular aspects of X-linked agammaglobulinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

The Primary Immunodeficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

Variability in B cell maturation and differentiation in X-linked agammaglobulinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

X-linked agammaglobulinemia: an analysis of 96 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230197

20 June 2018

X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8898377

12 December 2020

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Identifiers

10.1007/BF03401645

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8898377%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8898377%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8898377%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Springer Nature article ID

10.1007/bf03401645

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