(Q74242328)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Connexin 26 gene mutation and autosomal recessive deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

W Reardon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

9100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

383-384

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2805%2978347-1

7 January 2021

10.1016/S0140-6736(05)78347-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482285%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference