(Q34385386)

1 August 2017

title

Mutations in btk in patients with presumed X-linked agammaglobulinemia (English)

1 reference

1 August 2017

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M E Conley

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1 August 2017

D Mathias

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1 August 2017

J Treadaway

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1 August 2017

Y Minegishi

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1 August 2017

J Rohrer

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1 August 2017

language of work or name

English

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publication date

1 May 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

1034-1043

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Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

1 August 2017

cites work

1 reference

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Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

6 July 2018

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X-linked agammaglobulinemia. A clinical and molecular analysis

6 July 2018

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Neutropenia in X-linked agammaglobulinemia.

6 July 2018

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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

6 July 2018

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A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.

6 July 2018

1 reference

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Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

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X-linked agammaglobulinemia and other immunoglobulin deficiencies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Bruton's tyrosine kinase is a key regulator in B-cell development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Parent-of-origin effects in multiple endocrine neoplasia type 2B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Impaired expansion of mouse B cell progenitors lacking Btk.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Defective B cell development and function in Btk-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Chronic enteroviral meningoencephalitis in agammaglobulinemic patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

X-linked agammaglobulinemia: an analysis of 96 patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Hypoimmunoglobulinemia with normal T cell function in female siblings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

Females with a disorder phenotypically identical to X-linked agammaglobulinemia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377085

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

9 December 2018

1 reference

12 December 2020

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan

1 reference

12 December 2020

B cells in patients with X-linked agammaglobulinemia

1 reference

12 December 2020

X-linked immune deficiency (xid) of CBA/N mice

1 reference

12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

12 December 2020

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

1 reference

12 December 2020

Molecular diagnosis of X-linked agammaglobulinaemia

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the DXS178 locus

1 reference

12 December 2020

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

1 reference

12 December 2020

Transcriptional regulatory elements within the first intron of Bruton's tyrosine kinase

1 reference

12 December 2020

Identifiers

DOI

10.1086/301828

1 reference

release_wbouo54mnjfmfegc3jlitumdoy

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wbouo54mnjfmfegc3jlitumdoy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1377085

1 reference

1 August 2017

1 reference