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Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
Drendel, Holli M; Pike, Jason E; Schumacher, Katherine; Ouyang, Karen; Wang, Jing; Stuy, Mary; Dlouhy, Stephen; Bai, Shaochun.
Afiliação
  • Drendel HM; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Pike JE; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Schumacher K; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Ouyang K; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Wang J; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Stuy M; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Dlouhy S; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
  • Bai S; Division of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.
Case Rep Genet ; 2015: 532090, 2015.
Article em En | MEDLINE | ID: mdl-26798524

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article