Work

Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing

Year: 2016

Type: article

Study design: Observational Study

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2016.06.291

Authors: L. Phillips, A. Töpf, K. Johnson, M. Bertoli, L. Xu, M. Lek, K. Claeys, P. Van den Bergh, J. Vissing, J. Colomer, C. Wallgren-Patterson, A. Lopez de Munain, J. Vilchez, A. Kostera-Pruszczyk, D. MacArthur, V. Straub

Institutions: Newcastle University, Broad Institute, Universitätsklinikum Aachen, Cliniques Universitaires Saint-Luc, University of Copenhagen, Bioef - Fundación Vasca de Innovación e Investigación Sanitarias, Medical University of Warsaw

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2517560624

FWCI:

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