MJ Young, MJ Longley, FY Li… - … Molecular Genetics, 2011 - Oxford Univ Press Defects in mitochondrial DNA (mtDNA) maintenance comprise an expanding repertoire of polymorphic diseases caused, in part, by mutations in the genes encoding the p140 mtDNA polymerase (POLG), its p55 accessory subunit (POLG2) or the mtDNA helicase (C10orf2). In an ... -
JD Sharer - Current Protocols in Human Genetics, 2011 - Wiley Online Library Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases is likely greater than 1:3000 live births. These conditions may present in the neonatal period as ... -
[CITATION] Host genomic profiling in human immunodeficiency virus infection.
KV Shianna, A Telenti, DH Persing… - … principles and practice, 2011 - ASM Press
CM Mak, C Lam, N Fong, W Siu, HH Lee… - … of Human Genetics, 2011 - nature.com ... In our experience of biochemicalgenetics, the elevated (C16:0+C18:1)/C2 acylcarnitines ratio is unusual and ... Chinese; Coxsackie virus; H1N1 human swine influenza; influenza-associated encephalopathy; thermolabile carnitine palmitoyltransferase II; viral infection-associated ... - -
M Gunay-Aygun, TC Falik-Zaccai, T Vilboux… - Nature Genetics, 2011 - nature.com ... These authors contributed equally to this work. Meral Gunay-Aygun &; Tzipora C Falik-Zaccai. Affiliations. Section on HumanBiochemicalGenetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA ...
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