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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg