Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

Pathogenic mutations of MARVELD2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (DFNB49) in families of Pakistan and Czech Roma origin. In fact, they are a significant cause of prelingual hearing loss in the Czech Roma, second only to...

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保存先:
書誌詳細
出版年:Hum Genet
主要な著者: Nayak, Gowri, Varga, Lukas, Trincot, Claire, Shahzad, Mohsin, Friedman, Penelope L., Klimes, Iwar, Greinwald, John H., Riazuddin, S Amer, Masindova, Ivica, Profant, Milan, Khan, Shaheen N., Friedman, Thomas B., Ahmed, Zubair M., Gasperikova, Daniela, Riazuddin, Sheikh, Riazuddin, Saima
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4561550/
https://ncbi.nlm.nih.gov/pubmed/25666562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1532-y
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