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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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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Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

By Shimozawa Nobuyuki   Suzuki Yasuyuki   Zhang Zhongyi   Imamura Atsushi   Ghaedi Kamran   Fujiki Yukio   Kondo Naomi  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1995-1999

Oxford University Press

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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

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Molecular Syndromology, Vol. 1, Iss. 6, 2011-09 ,pp. : 273-281

Karger

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Genetic and molecular definition of complementation group D in MHC class II deficiency

By Mach B.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 879-885

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