(Q50432450)

13 March 2018

title

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population (English)

1 reference

13 March 2018

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D Šafka Brožková

1

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13 March 2018

J Laštůvková

2

1 reference

13 March 2018

H Štěpánková

3

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13 March 2018

M Krůtová

4

1 reference

13 March 2018

M Trková

5

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13 March 2018

P Myška

6

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13 March 2018

P Seeman

7

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13 March 2018

publication date

13 December 2011

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13 March 2018

published in

Clinical Genetics

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13 March 2018

volume

82

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13 March 2018

issue

6

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13 March 2018

page(s)

579-582

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13 March 2018

Mutation history of the roma/gypsies

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

Tricellulin is a tight-junction protein necessary for hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01817.X

10.1111/J.1399-0004.2011.01817.X

21 January 2018

Identifiers

DOI

1 reference

13 March 2018

release_ctjxvjgvhfcsropnltjbpat5vq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ctjxvjgvhfcsropnltjbpat5vq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

13 March 2018