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GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

Laura Gort, Natalia de Olano, Judit Macías‐Vidal, Ma. Josep Coll

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Key concepts: Sandhoff disease, HEXA, Tay-Sachs disease, Biology, Hexosaminidase, Genetics, Compound heterozygosity, Lysosomal storage disease

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GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients — Research Paper | ScholarLens