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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Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
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Article
Online-ссылка: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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