TY  - GEN
AU  - Boone,Philip M
AU  - Yuan,Bo
AU  - Campbell,Ian M
AU  - Scull,Jennifer C
AU  - Withers,Marjorie A
AU  - Baggett,Brett C
AU  - Beck,Christine R
AU  - Shaw,Christine J
AU  - Stankiewicz,Pawel
AU  - Moretti,Paolo
AU  - Goodwin,Wendy E
AU  - Hein,Nichole
AU  - Fink,John K
AU  - Seong,Moon-Woo
AU  - Seo,Soo Hyun
AU  - Park,Sung Sup
AU  - Karbassi,Izabela D
AU  - Batish,Sat Dev
AU  - Ordóñez-Ugalde,Andrés
AU  - Quintáns,Beatriz
AU  - Sobrido,María-Jesús
AU  - Stemmler,Susanne
AU  - Lupski,James R
TI  - The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles
SN  - 1537-6605
PY  - 2014///1015
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Alu Elements
KW  - Base Sequence
KW  - Cation Transport Proteins
KW  - Cell Line, Transformed
KW  - DNA Copy Number Variations
KW  - Genotype
KW  - Humans
KW  - Protein Isoforms
KW  - Recombinant Fusion Proteins
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Spastic Paraplegia, Hereditary
KW  - Spastin
N1  - 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
UR  - https://doi.org/10.1016/j.ajhg.2014.06.014
ER  -