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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Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

By Shimozawa Nobuyuki   Suzuki Yasuyuki   Zhang Zhongyi   Imamura Atsushi   Toyama Ryusuke  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 1077-1083

Oxford University Press

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A novel form of cell type-specific partial IFN-R1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

By Kong Xiao-Fei   Vogt Guillaume   Chapgier Ariane   Lamaze Christophe   Bustamante Jacinta   Prando Carolina   Fortin Anny   Puel Anne   Feinberg Jacqueline   Zhang Xin-Xin   Gonnord Pauline   Pihkala-Saarinen Ulla M.   Arola Mikko   Moilanen Petra   Abel Laurent   Korppi Matti   Boisson-Dupuis Stphanie   Casanova Jean-Laurent  

Human Molecular Genetics, Vol. 19, Iss. 3, 2010-02 ,pp. : 434-444

Oxford University Press

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Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2858-2860

John Wiley & Sons Inc

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wiser ^tsl : a recessive X-linked temperature-sensitive lethal mutation that affects the wings and the eyes in Drosophila melanogaster

By Mela Angeliki   Tsitilou Sonia   Yannopoulos George  

Genetica, Vol. 135, Iss. 3, 2009-04 ,pp. : 333-345

Springer Publishing Company

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