A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Mol Genet Genomic Med. 2022 May;10(5):e1927. doi: 10.1002/mgg3.1927. Epub 2022 Mar 29.

Authors

Qiao Wei^{1

2}, Pei-Shan Wang^{1

2}, Hai-Lin Dong^{1

2}, Wen-Jiao Luo^{1

2}, Zhi-Ying Wu^{1

2}, Hong-Fu Li^{1

2}

Affiliations

¹ Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
² Key Laboratory of Medical Neurobiology of Zhejiang Province, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Abstract

Keywords: UBAP1; Chinese; hereditary spastic paraplegias.

Publication types

Case Reports
Letter

MeSH terms

Asian People / genetics
Carrier Proteins* / genetics
China
Humans
Pedigree
Spastic Paraplegia, Hereditary* / genetics

Substances

Carrier Proteins
UBAP1 protein, human