Mammalian Genome 8, 6(I-61 (1997). ellOllle 9 Springer-Verlag New York Inc. 1997 Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to Chromosome 7q32 and identification of a pseudogene on llp15 M.W. Russell, 1'2 S. du Manoir, 3 F.S. Collins, 2 L.C. Brody 2 1Departments of Pediatrics and Communicable Diseases, Human Genetics, and Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA 2Laboratory of Gene Transfer, National Center for Human Genome Research, 49 Convent Drive, Room 3A14, Bethesda, Maryland, 20892-4470, USA 3Diagnostic Development Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland, 20892, USA Received: 1 August 1996 / Accepted: 4 September 1996 Mitochondrial dysfunction is becoming increasingly recognized as tervals. Two apparently identical 1.7-kb clones contained a Kozak a cause of cardiovascular and neuromuscular diseases. Defects of consensus start sequence (Kozak 1987). A single clone was se- the mitochondrial respiratory chain represent a heterogeneous quenced (Genbank accession: U64028) on both strands with fluo- group of disorders that range in presentation from severe multi- rescent cycle sequencing (fmol cycle sequencing kit, Promega Inc., system organ failure in the neonatal period to exaggerated fatigue Madison, Wis.). This clone contains a single 348-nucleotide open with
Mammalian Genome – Springer Journals
Published: Mar 23, 2009
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