TY  - GEN
AU  - Romano,Alessandro
AU  - Tessa,Alessandra
AU  - Barca,Amilcare
AU  - Fattori,Fabiana
AU  - de Leva,Maria Fulvia
AU  - Terracciano,Alessandra
AU  - Storelli,Carlo
AU  - Santorelli,Filippo Maria
AU  - Verri,Tiziano
TI  - Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture
SN  - 1098-1004
PY  - 2013///0812
KW  - Chromosome Mapping
KW  - Computational Biology
KW  - Exons
KW  - Heat-Shock Proteins
KW  - genetics
KW  - Humans
KW  - Muscle Spasticity
KW  - Mutation
KW  - Phenotype
KW  - Phylogeny
KW  - Polymorphism, Single Nucleotide
KW  - RNA, Messenger
KW  - Sequence Alignment
KW  - Sequence Analysis, DNA
KW  - Spinocerebellar Ataxias
KW  - congenital
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22269
ER  -