Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? (Q57734381)

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9 November 2019

title

Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? (English)

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9 November 2019

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3

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9 November 2019

author name string

S A Weston

1

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9 November 2019

M L Prasad

2

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9 November 2019

H Chapel

4

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9 November 2019

E M Benson

5

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9 November 2019

language of work or name

English

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publication date

1 June 2001

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Clinical and Experimental Immunology

9 November 2019

published in

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9 November 2019

volume

124

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9 November 2019

issue

3

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9 November 2019

page(s)

465-469

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Common variable immunodeficiency: clinical and immunological features of 248 patients.

9 November 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

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Molecular diagnosis of X-linked agammaglobulinaemia

21 January 2018

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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.

21 January 2018

1 reference

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NIH conference. New insights into common variable immunodeficiency

21 January 2018

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PCR-SSCP: a method for detection of mutations

21 January 2018

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How sensitive is PCR-SSCP?

21 January 2018

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Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Immunodeficiency mutation databases - a new research tool

21 January 2018

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Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry

21 January 2018

1 reference

12 December 2020

Clinical and immunologic analyses of 103 patients with common variable immunodeficiency

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12 December 2020

Primary immunodeficiency diseases. Report of a WHO Scientific Group

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Immunodeficiency mutation databases--a new research tool

1 reference

12 December 2020

Genetic basis of abnormal B cell development

1 reference

12 December 2020

10.1046/J.1365-2249.2001.01556.X

Identifiers

DOI

1 reference

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9 November 2019

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