(Q71937465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

Hagemann TL

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Rosen FS

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Kwan SP

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

5

1 reference

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22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

296-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

22 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Recognition of a high-affinity phosphotyrosyl peptide by the Src homology-2 domain of p56lck

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

SH2 and SH3 domains: elements that control interactions of cytoplasmic signaling proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

The Primary Immunodeficiencies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

X-linked agammaglobulinemia and other immunoglobulin deficiencies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Binding of a high affinity phosphotyrosyl peptide to the Src SH2 domain: crystal structures of the complexed and peptide-free forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050405

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627183%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference