Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)
Amporn Tripatara
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorDouglas S. Kerr
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorMarilyn M. Lusk
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorMadhu Kolli
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorJie Tan
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725
Search for more papers by this authorCorresponding Author
Mulchand S. Patel
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725Search for more papers by this authorAmporn Tripatara
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorDouglas S. Kerr
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorMarilyn M. Lusk
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorMadhu Kolli
Departments of Nutrition, Biochemistry, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106
Search for more papers by this authorJie Tan
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725
Search for more papers by this authorCorresponding Author
Mulchand S. Patel
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo, New York 14214; Fax: 716-829-2725Search for more papers by this author
References
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