(Q50491845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11338284%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness (English)

1 reference

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7 November 2019

1 reference

1

1 reference

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7 November 2019

author name string

M E Conley

2

1 reference

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7 November 2019

J Rohrer

3

1 reference

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7 November 2019

L A Myers

4

1 reference

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7 November 2019

K Zahradka

5

1 reference

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7 November 2019

J Kelecić

6

1 reference

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7 November 2019

J Sertić

7

1 reference

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7 November 2019

A Stavljenić-Rukavina

8

1 reference

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7 November 2019

publication date

1 April 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11338284%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Allergy & Immunology

7 November 2019

published in

1 reference

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7 November 2019

volume

12

1 reference

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7 November 2019

issue

2

1 reference

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7 November 2019

page(s)

107-111

1 reference

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

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Mutations in btk in patients with presumed X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Encephalomyelitis in primary hypogammaglobulinaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Mitochondria and dystonia: the movement disorder connection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-3038.2001.0129999107.X

10.1034/J.1399-3038.2001.0129999107.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11338284%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference