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

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

Publisher： Springer Publishing Company

ISSN： 1434-5161

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

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

By  

Molecular Syndromology, Vol. 1, Iss. 1, 2010-01 ,pp. : 27-34

Karger

Access to resources Recommend Favorite

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1565-1569

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

By  

Molecular Syndromology, Vol. 8, Iss. 2, 2017-01 ,pp. : 93-97

Karger

Access to resources Recommend Favorite

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

By Kjaergaard S.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 599-604

Oxford University Press

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite