The Sac1 Domain of <i> <scp>SYNJ</scp> 1 </i> Identified Mutated in a Family with Early‐Onset Progressive <scp>P</scp> arkinsonism with Generalized Seizures

E. Krebs, Catharine; Karkheiran, Siamak; Powell, James; Cao, Mian; Makarov, Vladimir; Darvish, Hossein; Di Paolo, Gilbert; H. Walker, Ruth; Ali Shahidi, Gholam; D. Buxbaum, Joseph; De Camilli, Pietro; Yue, Zhenyu; Paisán‐Ruiz, Coro

doi:10.1002/humu.22372

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The Sac1 Domain of <i> <scp>SYNJ</scp> 1 </i> Identified Mutated in a Family with Early‐Onset Progressive <scp>P</scp> arkinsonism with Generalized Seizures

Published in Human Mutation • Jun 26, 2013

Authors:

Catharine E. Krebs

Siamak Karkheiran

James Powell

Abstract

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 NH2 -terminal Sac...

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Open Access

Subject

Biology

Parkinsonism

Mutation

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