Mutation analysis of the GJB2and GJB6genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss

Autor: Elbagoury, Nagham M., Soliman, Hala N., Mohammed, Ola S., Ghorab, Eman A., Elruby, Mona O., El-bassyouni, Hala T., Essawi, Mona L.
Zdroj: Middle East Journal of Medical Genetics; January 2014, Vol. 3 Issue: 1 p11-15, 5p
Abstrakt: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common type of hereditary hearing loss. It is extremely heterogeneous and over 70 loci (known as DFNB) have been identified. The most frequent gene implicated in ARNSHL is GJB2, which is responsible for more than half of the cases. It is located in the DFNB1 locus, which contains the GJB2 and GJB6 genes.
Databáze: Supplemental Index