The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures

This study aimed to elucidate the genetic causes underlying early-onset parkinsonism (EOP) in a consanguineous Iranian family. To attain this, homozygosity mapping and whole-exome sequencing were performed. As a result, a homozygous mutation (c.773G>A; p.Arg258Gln) lying within the NH(2)-terminal...

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Main Authors: Krebs, Catharine E., Karkheiran, Siamak, Powell, James C., Cao, Mian, Makarov, Vladimir, Darvish, Hossein, Di Paolo, Gilbert, Walker, Ruth H., Shahidi, Gholam Ali, Buxbaum, Joseph D., De Camilli, Pietro, Yue, Zhenyu, Paisán-Ruiz, Coro
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3790461/
https://ncbi.nlm.nih.gov/pubmed/23804563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22372
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