표적패널염기서열분석 기술을 통해 진단한 SPG11유전자 변이를 보인 얇은 뇌량 유전경직하반신마비
SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing
김혜림, 민영기, 홍상빈, 김만진, 성문우, 신제영,
소속 상세정보
김혜림 ( Kim Hae-Lim )
Seoul National University Hospital Department of Neurology
민영기 ( Min Young-Gi )
Seoul National University Hospital Department of Neurology
홍상빈 ( Hong Sang-Bin )
Seoul National University Hospital Department of Neurology
김만진 ( Kim Man-Jin )
Seoul National University Hospital Department of Laboratory Medicine
성문우 ( Seong Moon-Woo )
Seoul National University Hospital Department of Laboratory Medicine
신제영 ( Shin Je-Young )
Seoul National University Hospital Department of Neurology
Abstract
[초록없음:No abstract]
키워드
High-throughput nucleotide sequencing; Hereditary spastic paraplegia; Arnold-Chiari malformation
원문 및 링크아웃 정보
등재저널 정보