The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles
SPAST富含Alu序列的基因组结构使其易患多种功能不同的疾病相关CNV等位基因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.06.014.
Philip M Boone ,Bo Yuan ,Ian M Campbell ,Jennifer C Scull ,Marjorie A Withers ,Brett C Baggett ,Christine R Beck ,Christine J Shaw ,Pawel Stankiewicz ,Paolo Moretti ,Wendy E Goodwin ,Nichole Hein ,John K Fink ,Moon-Woo Seong ,Soo Hyun Seo ,Sung Sup Park ,Izabela D Karbassi ,Sat Dev Batish ,Andrés Ordóñez-Ugalde ,Beatriz Quintáns ,María-Jesús Sobrido ,Susanne Stemmler ,James R Lupski
