The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. [electronic resource]
Producer: 20141015Description: 143-61 p. digitalISSN:- 1537-6605
- Adenosine Triphosphatases -- genetics
- Alu Elements -- genetics
- Base Sequence
- Cation Transport Proteins -- genetics
- Cell Line, Transformed
- DNA Copy Number Variations -- genetics
- Genotype
- Humans
- Protein Isoforms -- genetics
- Recombinant Fusion Proteins -- genetics
- Sequence Analysis, DNA
- Sequence Deletion
- Spastic Paraplegia, Hereditary -- genetics
- Spastin
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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