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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon, Mariella T; Eftekharian, Shaya S; Ferdinandusse, Sacha; Tang, Sha; Naseri, Take; Reupena, Muagututi'a Sefuiva; McGarvey, Stephen T; Minster, Ryan L; Weeks, Daniel E; Nguyen, Daniel D; Lee, Sansan; Ellsworth, Katarzyna A; Vaz, Frédéric M; Dimmock, David; Pitt, James; Abdenur, Jose E.
Afiliação
  • Simon MT; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA.
  • Eftekharian SS; Department of Human Genetics, University of California, Los Angeles, California, USA.
  • Ferdinandusse S; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA.
  • Tang S; College of Osteopathic Medicine, Western University of Health Sciences, Pomona, California, USA.
  • Naseri T; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.
  • Reupena MS; Department of Clinical Genomics, Ambry Genetics, California, USA.
  • McGarvey ST; Ministry of Health, Apia, Samoa.
  • Minster RL; Lutia i Puava ae Mapu i Fagalele, Apia, Samoa.
  • Weeks DE; Department of Epidemiology, International Health Institute, Brown University School of Public Health, Providence, Rhode Island, USA.
  • Nguyen DD; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Lee S; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Vaz FM; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA.
  • Dimmock D; Department of Biochemistry, California State University Long Beach, Long Beach, California, USA.
  • Pitt J; Hawaii Community Genetics, Hawai'i Pacific Health, Honolulu, Hawaii, USA.
  • Abdenur JE; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Am J Med Genet A ; 185(1): 157-167, 2021 01.
Article em En | MEDLINE | ID: mdl-33112498
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Enoil-CoA Hidratase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Enoil-CoA Hidratase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos