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Comment
. 2016 May;273(5):1327-8.
doi: 10.1007/s00405-015-3782-7. Epub 2015 Sep 25.

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss

Urszula Lechowicz  1 , Agnieszka Pollak  1 , Dominka Oziębło  1 , Monika Ołdak  2
Affiliations
Comment

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss

Urszula Lechowicz et al. Eur Arch Otorhinolaryngol. 2016 May.
No abstract available

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References

    1. Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K (2015) TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. Eur Arch Otorhinolaryngol. doi:10.1007/s00405-015-3671-0[Epub ahead of print] - PubMed
    1. Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 8(1):19–23 - PubMed
    1. Lechowicz U, Pollak A, Podgorska A, Stawinski P, Franke A, Petersen B et al (2015) Profile of TMPRSS3 mutation among Polish patients with nonsyndromic hearing impairment. In: European Human Genetics Conference. Glasgow, Scotland, United Kingdom. Eur J Hum 23(1)
    1. Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet. 2001;38(6):396–400. doi: 10.1136/jmg.38.6.396. - DOI - PMC - PubMed
    1. Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet. 2010;18(4):407–413. doi: 10.1038/ejhg.2009.190. - DOI - PMC - PubMed

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