Fabry disease mosaicism: Genotype-phenotype correlation and the role of next generation sequencing

Molecular Genetics and Metabolism 2026

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Authors: Uma Ramaswami, Chong Yew Tan, Mary Gable, Derek G. Burke, Clare E. Beesley

DOI: 10.1016/j.ymgme.2025.109593

Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders