A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family. (Q43447341)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19274344%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19274344%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

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Regina Celia Mingroni Netto

5

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23 January 2020

author name string

A C Batissoco

1

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23 January 2020

M T B M Auricchio

2

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23 January 2020

L Kimura

3

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23 January 2020

A Tabith-Junior

4

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23 January 2020

language of work or name

English

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publication date

1 February 2009

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19274344%20AND%20SRC:MED&resulttype=core&format=json

Brazilian Journal of Medical and Biological Research

23 January 2020

published in

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23 January 2020

volume

42

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23 January 2020

issue

2

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23 January 2020

page(s)

168-171

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Connections with connexins: the molecular basis of direct intercellular signaling

23 January 2020

cites work

1 reference

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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

21 January 2018

1 reference

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A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Ion channel defects in hereditary hearing loss

21 January 2018

1 reference

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Gap junction systems in the mammalian cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

High frequency hearing loss correlated with mutations in the GJB2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Hearing loss: frequency and functional studies of the most common connexin26 alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Length of C-terminus of rCx46 influences oligomerization and hemichannel properties

21 January 2018

1 reference

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Mutational analysis of gap junction formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2009000200004

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

21 January 2018

1 reference

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10.1590/S0100-879X2009000200004

21 January 2018

Identifiers

DOI

1 reference

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23 January 2020

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