A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population

Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin,...

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Publicado no:Eur J Hum Genet
Main Authors: Perić, Stojan, Glumac, Jelena Nikodinović, Töpf, Ana, Savić-Pavićević, Dušanka, Phillips, Lauren, Johnson, Katherine, Cassop-Thompson, Marcus, Xu, Liwen, Bertoli, Marta, Lek, Monkol, MacArthur, Daniel, Brkušanin, Miloš, Milenković, Sanja, Rašić, Vedrana Milić, Banko, Bojan, Maksimović, Ružica, Lochmüller, Hanns, Stojanović, Vidosava Rakočević, Straub, Volker
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437897/
https://ncbi.nlm.nih.gov/pubmed/28295036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.16
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