Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Alecu JE, Ohmi Y, Bhuiyan RH, Inamori KI, Nitta T, Saffari A, Jumo H, Ziegler M, de Gusmao CM, Sharma N, Ohno S, Manabe N, Yamaguchi Y, Kambe M, Furukawa K, Sahin M, Inokuchi JI, Furakawa K, Ebrahimi-Fakhari D.
Alecu JE, et al. Among authors: ohmi y.
Am J Med Genet A. 2022 Sep;188(9):2590-2598. doi: 10.1002/ajmg.a.62880. Epub 2022 Jul 1.
Am J Med Genet A. 2022.
PMID: 35775650
Free PMC article.