2003•Molecular Genetics and MetabolismRequires access

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

Marion B. Coulter-Mackie

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Key concepts: Frameshift mutation, Missense mutation, Genetics, Exon, Mutation, Biology, Arylsulfatase A, Nonsense mutation

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Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele — Research Paper | ScholarLens