Romano, Alessandro

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. [electronic resource] - Human mutation Mar 2013 - 525-37 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22269 doi


Chromosome Mapping
Computational Biology
Exons
Heat-Shock Proteins--genetics
Humans
Muscle Spasticity--genetics
Mutation
Phenotype
Phylogeny
Polymorphism, Single Nucleotide
RNA, Messenger--genetics
Sequence Alignment
Sequence Analysis, DNA
Spinocerebellar Ataxias--congenital