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Paper Details

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Am J Med Genet A
12
2021
DNA, ECHS1, ECHS1 disease, ECHS1 protein, Leigh syndrome, Patients, RNA, SCEH, acidosis, autosomal recessive disorder, boys, c.489G, c.489G>A, c.832G, c.832G>A, daughter, developmental delay, dystonia, enoyl-CoA, fibroblasts, hypomorphic allele, ketosis, normally spliced mRNA, p.Ala278Thr, patients, regression, short, short-chain enoyl-CoA hydratase, valine
Author NameAffiliation
Take NaseriMinistry of Health
Muagututi'a Sefuiva Reupena
Stephen T McGarveyInternational Health Institute, Brown University School of Public Health
Ryan L MinsterGraduate School of Public Health, University of Pittsburgh
Daniel E WeeksGraduate School of Public Health, University of Pittsburgh
Daniel E WeeksGraduate School of Public Health, University of Pittsburgh
David DimmockRady Children's Institute for Genomic Medicine
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Release 1.2