The spectrum of mutations in Btk that cause X-linked agammaglobulinemia (Q40411033)

20 September 2017

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title

The spectrum of mutations in Btk that cause X-linked agammaglobulinemia (English)

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20 September 2017

Conley ME

1

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PubMed ID

7554467

20 September 2017

Rohrer J

series ordinal

2

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20 September 2017

1 September 1995

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Clinical Immunology and Immunopathology

20 September 2017

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20 September 2017

76

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20 September 2017

3 Pt 2

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20 September 2017

S192-7

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

20 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

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/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Identification of a ten-amino acid proline-rich SH3 binding site

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Structural basis for the binding of proline-rich peptides to SH3 domains

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

The PH domain: a common piece in the structural patchwork of signalling proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Solution structure of a pleckstrin-homology domain

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Structure of the pleckstrin homology domain from beta-spectrin.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

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/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

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/10.1016%2FS0090-1229%2895%2990198-1

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/10.1016%2FS0090-1229%2895%2990198-1

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/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

Pre-B cells and other possible precursor lymphoid cell lines derived from patients with X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990198-1

7 January 2021

10.1016/S0090-1229(95)90198-1

Identifiers

DOI

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20 September 2017

1 reference

PubMed ID

7554467