Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

By Fujiki Y.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2089-2094

Oxford University Press

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Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B

By Okumoto K.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1399-1405

Oxford University Press

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Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

By Leclerc D.   Campeau E.   Goyette P.   Adjalla C. E.   Christensen B.   Ross M.   Eydoux P.   Rosenblatt D. S.   Rozen R.   Gravel R. A.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1867-1874

Oxford University Press

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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

By Zeharia Avraham   Ebberink Merel   Wanders Ronald   Waterham Hans   Gutman Alisa   Nissenkorn Andreea   Korman Stanley  

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

Springer Publishing Company

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Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 739-742

John Wiley & Sons Inc

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