Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams

In conclusion, our study suggested whole exome sequencing, and genes associated with CDGs should be analyzed in patients with infantile spams and multiple system involvement, and mutant MOGS–impaired cell cycle progression. Our work broadens the mutation spectrum ofMOGS gene.

http://link.springer.com/10.1007/s10048-019-00590-5

Source: Neurogenetics - January 9, 2020 Category: Genetics & Stem Cells Source Type: research