An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency (Q24312387)

GOA release 2020-03-11

mesoderm development

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growth hormone deficiency

GOA release 2020-03-11

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isolated growth hormone deficiency

inferred from title

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B Duriez

1

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P Duquesnoy

2

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F Dastot

3

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P Bougnères

4

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S Amselem

5

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M Goossens

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

6

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language of work or name

English

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publication date

13 June 1994

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published in

FEBS Letters

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volume

346

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issue

2-3

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page(s)

165-70

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cites work

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2894%2900457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2894%2900457-9

7 January 2021

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)

1 reference

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7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1 reference

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7 January 2021

Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2894%2900457-9

7 January 2021

Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency

1 reference

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7 January 2021

Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity

1 reference

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7 January 2021

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

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7 January 2021

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

1 reference

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7 January 2021

X-linked hypogammaglobulinemia and isolated growth hormone deficiency

1 reference

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7 January 2021

Expression of the gene defect in X-linked agammaglobulinemia

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7 January 2021

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

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7 January 2021

Characterization of sites for tyrosine phosphorylation in the transforming protein of Rous sarcoma virus (pp60v-src) and its normal cellular homologue (pp60c-src)

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7 January 2021

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

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7 January 2021

Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22

1 reference

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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

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7 January 2021

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

1 reference

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

X-linked agammaglobulinemia and isolated growth hormone deficiency

1 reference

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7 January 2021

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency

1 reference

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7 January 2021