Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. [electronic resource]
Producer: 20070815Description: 809-14 p. digitalISSN:- 1468-1331
- Adenosine Triphosphatases -- genetics
- Adolescent
- Adult
- Age of Onset
- Child
- Child, Preschool
- Exons -- genetics
- Female
- Genes, Dominant
- Genotype
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Norway -- epidemiology
- Phenotype
- Point Mutation
- Polymorphism, Single Nucleotide
- Sequence Alignment
- Sequence Deletion
- Spastic Paraplegia, Hereditary -- epidemiology
- Spastin
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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