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Paper Details

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Mol Genet Metab
12
2020
ARV1, ARV1 Homolog, ARV1-deficiency, Arv1, Fatty Acid, Fatty Acid Homeostasis Modulator, GPI, GPI-anchor disorders, GPI-anchor synthesis deficiency, GPI-anchor synthesis disorder, S. cerevisiae, ataxia, cDNA, central hypotonia, cerebral and cerebellar atrophy, cortical visual impairment, delayed speech development, early infantile epileptic encephalopathy, epilepsy, fibroblasts, global developmental delays, human, human ARV1, human cells, humans, hypotonia, intellectual disability, neutrophils, patients, sphingolipid, splice variants, variants, visual impairment, yeast
Author NameAffiliation
Mariska DavidsNational Human Genome Research Institute, National Institutes of Health
Mariska DavidsNational Human Genome Research Institute, National Institutes of Health
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Felicity CollinsSydney Medical School, Sydney University, Children's Hospital at Westmead
Tito OnyekweliNational Human Genome Research Institute, National Institutes of Health
David R AdamsNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
David R AdamsNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
Cynthia J TifftNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
Cynthia J TifftNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
William A GahlNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
William A GahlNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
Lynne A WolfeNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
Lynne A WolfeNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
John ChristodoulouGenetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney Medical School, Sydney University, Australia Murdoch Children's Research Institute, Melbourne Medical School, University of Melbourne
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health, USA Office of the Clinical Director
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