Associated Papers
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P et al.
Genes, 2023
Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.
Zheng L et al.
Nature Structural & Molecular Biology, 2021
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Sun L et al.
Bosnian Journal of Basic Medical Sciences, 2020
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD et al.
American Journal of Human Genetics, 2019
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Jensen BS et al.
Human Mutation, 2015
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