TY  - JOUR 
AU  - Boone, P. M.
AU  - Yuan, B.
AU  - Campbell, I. M.
AU  - Scull, J. C.
AU  - Withers, M. A.
AU  - Baggett, B. C.
AU  - Beck, C. R.
AU  - Shaw, C. J.
AU  - Stankiewicz, P.
AU  - Moretti, P.
AU  - Goodwin, W. E.
AU  - Hein, N.
AU  - Fink, J. K.
AU  - Seong, M. W.
AU  - Seo, S. H.
AU  - Park, S. S.
AU  - Karbassi, I. D.
AU  - Batish, S. D.
AU  - Ordóñez‐Ugalde, Andrés
AU  - Quintans Castro, Beatriz
AU  - Sobrido Gómez, María Jesús
AU  - Stemmler, S.
AU  - Lupski, J. R.
PY  - 2014
SN  - 0002-9297
UR  - http://hdl.handle.net/20.500.11940/4512
AB  - Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have...
LA  - eng
KW  - Adenosine Triphosphatases
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
TI  - The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles
DO  - 10.1016/j.ajhg.2014.06.014
T2  - AMERICAN JOURNAL OF HUMAN GENETICS
M2  - 143
VL  - 95
ER  -