Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

A modifier variant can abrogate the risk of a monogenic disorder. DFNM1 is a locus on chromosome 1 encoding a dominant suppressor of human DFNB26 recessive, profound deafness. Here, we report that DFNB26 is associated with a substitution (p.Gly116Glu) in the pleckstrin homology domain of GRB2-associ...

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Vydáno v:J Clin Invest
Hlavní autoři: Yousaf, Rizwan, Ahmed, Zubair M., Giese, Arnaud P.J., Morell, Robert J., Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R., Riazuddin, Sheikh, Friedman, Thomas B., Riazuddin, Saima
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873844/
https://ncbi.nlm.nih.gov/pubmed/29408807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI97350
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