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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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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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