Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity

Author:

Kim So Young,Park Gibeom,Han Kyu-Hee,Kim Ahreum,Koo Ja-Won,Chang Sun O.,Oh Seung Ha,Park Woong-Yang,Choi Byung Yoon

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference30 articles.

1. Nonsyndromic hearing impairment: unparalleled heterogeneity;G Van Camp;Am J Hum Genet,1997

2. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans;L Zelante;Hum Mol Genet,1997

3. Lalaiants MR, Bliznets EA, Markova TG, Poliakov AV, Tavartkiladze GA (2011) [The results of audiological examination of children presenting with sensorineural loss of hearing due to GJB2 gene mutations during the first year of life]. Vestn Otorinolaringol: 31–35.

4. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG;P Gasparini;Eur J Hum Genet,2000

5. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene;F Denoyelle;Hum Mol Genet,1997

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