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Title

A NOVEL COMPOUND HETEROZYGOUS MUTATION (35DELG, 363DELC) IN THE CONNEXIN 26 GENE CAUSES NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS (CASE REPORT)

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Abstract

 Mutations in the CONNEXIN 26 (Cx26) gene are a common cause of hereditary HEARING LOSS in different populations. In the present study, an Iranian patient with bilateral HEARING LOSS underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic HEARING LOSS (NSHL).

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    APA: Copy

    ONSORI, HABIB, RAHMATI, MOHAMMAD, & FAZLI, DAVOOD. (2014). A NOVEL COMPOUND HETEROZYGOUS MUTATION (35DELG, 363DELC) IN THE CONNEXIN 26 GENE CAUSES NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS (CASE REPORT). ACTA MEDICA IRANICA, 52(8), 0-0. SID. https://sid.ir/paper/278662/en

    Vancouver: Copy

    ONSORI HABIB, RAHMATI MOHAMMAD, FAZLI DAVOOD. A NOVEL COMPOUND HETEROZYGOUS MUTATION (35DELG, 363DELC) IN THE CONNEXIN 26 GENE CAUSES NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS (CASE REPORT). ACTA MEDICA IRANICA[Internet]. 2014;52(8):0-0. Available from: https://sid.ir/paper/278662/en

    IEEE: Copy

    HABIB ONSORI, MOHAMMAD RAHMATI, and DAVOOD FAZLI, “A NOVEL COMPOUND HETEROZYGOUS MUTATION (35DELG, 363DELC) IN THE CONNEXIN 26 GENE CAUSES NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS (CASE REPORT),” ACTA MEDICA IRANICA, vol. 52, no. 8, pp. 0–0, 2014, [Online]. Available: https://sid.ir/paper/278662/en

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