(Q71301090)

English

Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia

scientific article published on 01 May 1996

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

Schuster V

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

Seidenspinner S

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

Kreth HW

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

publication date

1 May 1996

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17 October 2019

American Journal of Medical Genetics Part A

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17 October 2019

63

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17 October 2019

1

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17 October 2019

318-322

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PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Hereditary alterations in the immune response: coexistence of "agammaglobulinemia", acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

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%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

BTKbase: a database of XLA-causing mutations. International Study Group.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C318%3A%3AAID-AJMG53%3E3.0.CO%3B2-N

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960503)63:1<318::AID-AJMG53>3.0.CO;2-N

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723128%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

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