Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
about
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Muscle-Bone Interactions in Pediatric Bone Diseases.Myopathology in the times of modern genetics.The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.Interactome analyses revealed that the U1 snRNP machinery overlaps extensively with the RNAP II machinery and contains multiple ALS/SMA-causative proteins.
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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
description
2016 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մարտին հրատարակված գիտական հոդված
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artículu científicu espublizáu en 2016
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im März 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/03/03)
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vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/03/03)
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наукова стаття, опублікована в березні 2016
@uk
مقالة علمية (نشرت في 3-3-2016)
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name
Mutations in Subunits of the A ...... and Congenital Bone Fractures
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Mutations in Subunits of the A ...... and Congenital Bone Fractures
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Mutations in Subunits of the A ...... and Congenital Bone Fractures
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type
label
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@ast
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@en
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@nl
prefLabel
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@ast
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@en
Mutations in Subunits of the A ...... and Congenital Bone Fractures
@nl
P2093
P2860
P50
P921
P1476
Mutations in Subunits of the A ...... and Congenital Bone Fractures
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P2093
Angelika Zwirner
Anne van Riesen
Christoph Hübner
Ellen Knierim
Esther Gill
Franziska Seifert
Gudrun Schottmann
Hans Hilmar Goebel
Hiromi Hirata
Markus Schuelke
P2860
P304
P356
10.1016/J.AJHG.2016.01.006
P407
P577
2016-03-03T00:00:00Z