Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
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Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron DisordersTransgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.
P2860
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
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2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@en
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@nl
type
label
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@en
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@nl
prefLabel
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@en
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@nl
P2093
P2860
P356
P1476
Re-evaluation of the phenotype ...... 5Cys mutation in a new family.
@en
P2093
Anna Vihola
Anni Evilä
Ayat Bashir
Bjarne Udd
Fiona Norwood
Johanna Palmio
Kate Bushby
Kati Viitaniemi
Michio Hirano
Peter Hackman
P2860
P304
P356
10.1136/JNNP-2014-309349
P407
P577
2015-05-07T00:00:00Z