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Biochemical analysis of human POLG2 variants associated with mitochondrial disease

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 ...
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An Overview of Biochemical Genetics

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 ...
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[CITATION] Host genomic profiling in human immunodeficiency virus infection.

KV Shianna, A Telenti, DH Persing… - … principles and practice, 2011 - ASM Press

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

CM Mak, C Lam, N Fong, W Siu, HH Lee… - … of Human Genetics, 2011 - nature.com
... In our experience of biochemical genetics, 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 ...
Cited by 1 - Related articles - All 3 versions

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet [alpha]-granules

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 Human Biochemical Genetics, Medical Genetics Branch, National Human
Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA ...
Cited by 1

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