Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)
Author:
Affiliation:
1. Islamic Azad University, Iran
Publisher
FapUNIFESP (SciELO)
Subject
Multidisciplinary
Link
http://www.scielo.br/pdf/babt/v59/1516-8913-babt-16150046.pdf
Reference24 articles.
1. Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling;Batissoco AC;Ear Hear,2009
2. Connexin: A Guide;Beyer EC,2009
3. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c;Bolz H;35delG of GJB2 and the 342-kb deletion involving GJB6. Hear Res,2004
4. The Role of Connexins in Human Disease;Chang EH;Ear Hear,2003
5. A novel deletion involving the connexin-30 gene, del(GJB6- d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;Del Castillo FJ;J Med Genet,2005
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran;Journal of Clinical Laboratory Analysis;2021-09-28
2. Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR;European Journal of Medical Genetics;2020-04
3. Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews;Fetal and Pediatric Pathology;2019-06-19
4. Frequency of GJB2 mutations in families with autosomal recessive non-syndromic hearing loss in Khuzestan province;Genetika;2018
5. Erratum: Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL);Brazilian Archives of Biology and Technology;2016
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