High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F06%3A149" target="_blank" >RIV/00216208:11130/06:149 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

Original language description

Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilater

Czech name

Vysoká prevalence mutace IVS 1+1 G to A v GJB2 genu mezi českými pacienty s poruchou sluchu a pouze jednou monoalelickou mutací v kodující oblasti GJB2 genu

Czech description

Vysoká prevalence mutace IVS 1+1 G to A v GJB2 genu mezi českými pacienty s poruchou sluchu a pouze jednou monoalelickou mutací v kodující oblasti GJB2 genu

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/1A8235" target="_blank" >1A8235: Neuroactive steroids in male reproduction</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2006

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinical Genetics

ISSN

0009-9163

e-ISSN

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Volume of the periodical

69

Issue of the periodical within the volume

5

Country of publishing house

DK - DENMARK

Number of pages

4

Pages from-to

410-413

UT code for WoS article

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EID of the result in the Scopus database

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