(Q41888636)

13 October 2017

A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia (English)

1 reference

13 October 2017

Ohashi Y

1

1 reference

13 October 2017

Tsuchiya S

series ordinal

2

1 reference

13 October 2017

Konno T

series ordinal

3

1 reference

13 October 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

Journal of Medical Genetics

13 October 2017

1 reference

13 October 2017

32

1 reference

13 October 2017

1

1 reference

13 October 2017

77-78

1 reference

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

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

Secondary structure of Src homology 2 domain of c-Abl by heteronuclear NMR spectroscopy in solution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

Epstein‐Barr Virus‐induced Lymphoblastoid Cell Lines from Patients with Primary Immunodeficiency Diseases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

Epstein-Barr virus-induced precursor B cell lines from patients with congenital agammaglobulinemia

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050193

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7897635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.1.77

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

7897635

1 reference