Prenatal Screening for the35delG GJB2, Del (GJB6-D13S1830), and Del (GJB6-D13S1854) Mutations in the Romanian Population
Author:
Affiliation:
1. Genetic Lab, Bucharest, Romania.
2. Department of Genetics, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0048
Reference28 articles.
1. Prevalent connexin 26 gene (GJB2) mutations in Japanese
2. Letter
3. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6
4. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
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
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1. Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene;Genes;2022-12-26
2. GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon;Genes;2019-10-25
3. The mitochondrial tRNAThr G15930A may be a novel mutation associated with hearing impairment;Mitochondrial DNA Part B;2019-01-02
4. Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families;International Journal of Pediatric Otorhinolaryngology;2018-12
5. GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss;Revista Romana de Medicina de Laborator;2017-02-18
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