An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). [electronic resource]
Producer: 20201204Description: 3295 p. digitalISSN:- 2045-2322
- Aged
- Exome
- Female
- Gait Disorders, Neurologic -- genetics
- Genes, Dominant
- Genes, Recessive
- Humans
- Magnetic Resonance Imaging
- Male
- Membrane Proteins -- genetics
- Middle Aged
- Motor Neuron Disease -- genetics
- Mutation
- Mutation, Missense
- Pedigree
- Phenotype
- Republic of Korea
- Sequence Analysis, DNA
- Spastic Paraplegia, Hereditary -- genetics
- Exome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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