Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT
about
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
P2860
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT
description
2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի օգոստոսին հրատարակված գիտական հոդված
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artículu científicu espublizáu en 2016
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im Mai 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/08/01)
@sk
vědecký článek publikovaný v roce 2016
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wetenschappelijk artikel (gepubliceerd op 2016/08/01)
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наукова стаття, опублікована в серпні 2016
@uk
مقالة علمية (نشرت في أغسطس 2016)
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name
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
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Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
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Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@nl
type
label
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@ast
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@en
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@nl
prefLabel
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@ast
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@en
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@nl
P2093
P2860
P50
P356
P1433
P1476
Molecular Genetic Characteriza ...... n of 41 Novel Mutations in MUT
@en
P2093
Anne-Sophie Schnellmann
Brian Fowler
Celine Buerer
Seraina Lutz
P2860
P304
P356
10.1002/HUMU.23013
P577
2016-05-23T00:00:00Z