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Elisabeth Kjeldsen Buvang

University of Tromsø

4

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COLLAGEN RELATED MUSCLE DISEASES

2021 Neuromuscular Disorders
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amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis

2015 Human Mutation
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Molecular and cellular characterization of novel α-mannosidosis mutations

2011 Human Molecular Genetics
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Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction

2011 PLOS ONE
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