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Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree

Somatic VariantMendelian DisorderAtypical OnsetGenetic DisorderGeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicineChinese PedigreeHeterozygous Mutations