A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

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Journal of Human Genetics, Vol. 52, Iss. 7, 2007-07 ,pp. : 599-606

Springer Publishing Company

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Biochemical Evidence for Nuclear Gene Involvement in Phenotype of Non-Syndromic Deafness Associated with Mitochondrial 12S rRNA Mutation

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Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 963-971

Oxford University Press

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Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

By Guan M-X.  

Human Molecular Genetics, Vol. 10, Iss. 6, 2001-03 ,pp. : 573-580

Oxford University Press

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A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

By Birve Anna   Neuwirth Christoph   Weber Markus   Marklund Stefan L.   Nilsson Ann-Charloth   Jonsson Per Andreas   Andersen Peter M.  

Human Molecular Genetics, Vol. 19, Iss. 21, 2010-11 ,pp. : 4201-4206

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Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids

By Toompuu Marina  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2275-2283

Oxford University Press

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