Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep.,2015
2. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency;Davids;Mol. Genet. Metab.,2020
3. Arabidopsis thaliana expresses two functional isoforms of Arvp, a protein involved in the regulation of cellular lipid homeostasis;Forés;Biochim. Biophys. Acta,2006
4. Arv1 regulates PM and ER membrane structure and homeostasis but is dispensable for intracellular sterol transport;Georgiev;Traffic,2013
5. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am. J. Hum. Genet.,2017
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein;The Cerebellum;2023-09-26
2. ARV1 Gene: Another example for one gene many faces;2023-03-30
3. Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy;Journal of Clinical Laboratory Analysis;2022-01-29
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