Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
Author:
Funder
National Research Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s13258-022-01349-3.pdf
Reference51 articles.
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2. Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S (2009) SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred’s syndrome in Pakistanis. J Hum Genet 54:266–270
3. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163–2172
4. Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A (2021) Identification of homozygous mutations for hearing loss. Gene 778:145464
5. Ding Y, Leng J, Fan F, Xia B, Xu P (2013) The role of mitochondrial DNA mutations in hearing loss. Biochem Genet 51:588–602
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