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British Journal of Dermatology, ISSN 0007-0963, 02/2010, Volume 162, Issue 2, pp. 448 - 451
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 02/2010, Volume 162, Issue 2, pp. 448 - 451
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2007, Volume 15, Issue 11, pp. 1132 - 1138
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2004, Volume 41, Issue 9, pp. 669 - 678
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2008, Volume 45, Issue 3, pp. 129 - 133
Purpose:To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy... 
ROTATION | DEFECTS | DISEASES | SYNTHASE SUBUNIT-8 | BLUE NATIVE ELECTROPHORESIS | GENETICS & HEREDITY | PROTEIN COMPLEXES | ENZYME COMPLEX | PROTON CHANNEL | DEFICIENCY | GENOME | Enzymes | Cardiomyopathy | Genes | Cloning | Fibroblasts | Mutation | Kinases | Age | Astigmatism
Journal Article
Journal Article
Journal Article
Nephrology, Dialysis, Transplantation, ISSN 0931-0509, 2005, Volume 20, Issue 2, pp. 336 - 341
BACKGROUND: The heterogeneity of mitochondrial cytopathies is characteristic for this group of disorders, which preferentially affect the muscle and nerve... 
Glomerulosclerosis | Pregnancy | A3243G mtDNA transition | Heteroplasmy | Proteinuria | Kidney - pathology | Humans | Male | Nephrotic Syndrome - genetics | Mutation, Missense | DNA Primers | DNA - blood | DNA - isolation & purification | DNA, Mitochondrial - genetics | Pedigree | Base Sequence | Polymerase Chain Reaction | Adult | Female | RNA, Transfer, Leu - genetics
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 2007, Volume 62, Issue 4, pp. 422 - 426
Journal Article