ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree

Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2–5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In thi...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: Tunca, Ceren, Akçimen, Fulya, Coşkun, Cemre, Gündoğdu-Eken, Aslı, Kocoglu, Cemile, Çevik, Betül, Bekircan-Kurt, Can Ebru, Tan, Ersin, Başak, A. Nazlı
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2018
Soggetti:
Brief Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945623/
https://ncbi.nlm.nih.gov/pubmed/29453415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0107-5
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