A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. [electronic resource]
Producer: 20080416Description: 522-31 p. digitalISSN:- 1098-1004
- ATPases Associated with Diverse Cellular Activities
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Codon, Nonsense
- Cohort Studies
- DNA Mutational Analysis
- DNA, Complementary -- genetics
- Electron Transport Complex I -- genetics
- Female
- Fibroblasts -- metabolism
- Genes, Recessive
- Haplotypes
- Humans
- Italy
- Male
- Metalloendopeptidases -- genetics
- Middle Aged
- Mitochondria, Muscle -- metabolism
- Molecular Sequence Data
- Mutation
- Pedigree
- Point Mutation
- Sequence Deletion
- Spastic Paraplegia, Hereditary -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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