Ontology highlight
ABSTRACT:
SUBMITTER: Onsori H
PROVIDER: S-EPMC4499094 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Onsori Habib H Rahmati Mohammad M Fazli Davood D
Iranian journal of public health 20141201 12
Mutations in the GJB2 gene are the most common known cause of hereditary congenital hearing loss. Rapid genomic DNA extraction (RGDE) method was used for genomic DNA extraction. After amplification of coding region of CX26 gene with specific primers, expected PCR products with 724bp length were subjected to direct sequencing in both directions. We describe here a novel heterozygous -T to -C transition at codon 202 (TGC→CGC) of the GJB2 gene in a patient, 40-year-old Iranian woman, which replaces ...[more]