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Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

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第一作者： H,Li

第一单位： Carmen and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA; Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA.

作者： H,Li ^[1] ; L,Spencer ^[1] ; F,Nahhas ^[2] ; J,Miller ^[3] ; A,Fribley ^[3] ; G,Feldman ^[1] ; R,Conway ^[1] ; B,Wolf ^[4]

作者单位： Carmen and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA; Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA. ^[1] Department of Pathology, Wayne State University School of Medicine, Detroit, MI 48201, USA; Molecular Genetics Laboratory, Detroit Medical Center University Laboratories, Detroit, MI 48201, USA. ^[2] Carmen and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA; The Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Detroit, MI 48201, USA. ^[3] Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA; Genetics Research Laboratory of the Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA. Electronic address: bwolf1@hfhs.org. ^[4]

关键词 Biotinidase deficiency Intronic Mutation Newborn screening Transcription