De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Brain"
DOI: 10.1093/brain/awy092
Abstract: Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal homeostasis,… read more here.
Keywords: mutations atp6v1a; developmental encephalopathy; novo mutations; atp6v1a gene ... See more keywords
Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes mellitus"
DOI: 10.14341/dm11358
Abstract: An erratum on A synonymous variant in GCK gene as a cause of gestational diabetes mellitus by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov,… read more here.
Keywords: gene cause; diabetes mellitus; erratum synonymous; gck gene ... See more keywords