Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

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Palmio , J , Evilä , A , Bashir , A , Norwood , F , Viitaniemi , K , Vihola , A , Huovinen , S , Straub , V , Hackman , P , Hirano , M , Bushby , K & Udd , B 2016 , ' Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family ' , Journal of Neurology, Neurosurgery and Psychiatry , vol. 87 , no. 4 , pp. 448-450 . https://doi.org/10.1136/jnnp-2014-309349

Title: Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family
Author: Palmio, Johanna; Evilä, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
Date: 2016-04
Language: eng
Number of pages: 3
Belongs to series: Journal of Neurology, Neurosurgery and Psychiatry
ISSN: 0022-3050
URI: http://hdl.handle.net/10138/161264
Subject: AMYOTROPHIC-LATERAL-SCLEROSIS
DOMINANT DISTAL MYOPATHY
FRONTOTEMPORAL DEMENTIA
ALS
PROTEIN
3112 Neurosciences
3124 Neurology and psychiatry
3126 Surgery, anesthesiology, intensive care, radiology
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