Τίτλος:
Easy, Rapid, and Cost-Effective Methods for Identifying Carriers of
Recurrent GJB2 Mutations Causing Nonsyndromic Hearing Impairment in the
Greek Population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
A variety of techniques have been developed for screening the GJB2 gene
for known and unknown mutations, especially the most common mutation in
the Caucasian population, the c. 35delG. Other mutations that have been
so far characterized in the GJB2 gene seem to have different
geographical distributions, and therefore there is an interest in
identifying recurrent mutations specific for each population and
developing easy and rapid screening techniques. Here we present easy
screening protocols for already identified recurrent mutations in the
Greek population. Developing easy, rapid, and cost-effective screening
methods will facilitate the detection of GJB2 recurrent mutation
carriers, at large, in the Greek population.
Συγγραφείς:
Kokotas, Haris
Grigoriadou, Maria
Hatzaki, Angeliki and
Antoniadi, Thalia
Giannoulia-Karantana, Aglaia
Petersen, Michael
B.
Περιοδικό:
Genetic Testing and Molecular Biomarkers
Εκδότης:
MARY ANN LIEBERT INC PUBL
DOI:
10.1089/gtmb.2009.0136
