TY  - GEN
AU  - Jahic,Amir
AU  - Erichsen,Anne K
AU  - Deufel,Thomas
AU  - Tallaksen,Chantal M
AU  - Beetz,Christian
TI  - A polymorphic Alu insertion that mediates distinct disease-associated deletions
SN  - 1476-5438
PY  - 2017///0726
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Alleles
KW  - Alu Elements
KW  - Chromosome Breakpoints
KW  - Exons
KW  - Gene Deletion
KW  - Homologous Recombination
KW  - Humans
KW  - Mutagenesis, Insertional
KW  - Paraplegia
KW  - diagnosis
KW  - Polymorphism, Genetic
KW  - Spastic Paraplegia, Hereditary
KW  - Spastin
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ejhg.2016.20
ER  -