Open AccessA novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia
Author(s) -
Wei Qiao,
Wang PeiShan,
Dong HaiLin,
Luo WenJiao,
Wu ZhiYing,
Li HongFu
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1927
Subject(s) - hereditary spastic paraplegia , proband , medicine , weakness , spasticity , spinal muscular atrophy , pediatrics , genetics , physical therapy , disease , phenotype , anatomy , biology , gene , mutation