ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder
Authors: Mariella T.Simon; Shaya S Eftekharian; Sacha Ferdinandusse; Sha Tang; Take Naseri; Muagututi'a Sefuiva Reupena; Stephen T McGarvey; Ryan L Minster; Daniel E Weeks; Daniel D Nguyen; Sansan Lee; Katarzyna A Ellsworth; Frédéric M Vaz; David Dimmock; James Pitt; Jose E Abdenur
Collaborators: Amsterdam Gastroenterology and Metabolism; Brown University; California State University Long Beach; Children's Hospital of Orange County, CA (CHOC); Hawai'i Pacific Health; Lutia i Puava ae Mapu i Fagalele; Ministry of Health; Murdoch Childrens Research Institute; Rady Children's Institute for Genomic Medicine; University of California, Irvine; University of California, Los Angeles; University of Pittsburgh; Western University of Health Sciences