A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Author:

Raas-Rothschild Annick,Wanders Ronald J.A.,Mooijer Petra A.W.,Gootjes Jeannette,Waterham Hans R.,Gutman Alisa,Suzuki Yasuyuki,Shimozawa Nobuyuki,Kondo Naomi,Eshel Gideon,Espeel Marc,Roels Frank,Korman Stanley H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Infantile Refsum disease in four Amish sibs;Bader;Am J Med Genet,2000

2. Clinical approach to inherited peroxisomal disorders: a series of 27 patients;Baumgartner;Ann Neurol,1998

3. The peroxisome biogenesis factors Pex4p, Pex22p, Pex1p, and Pex6p act in the terminal steps of peroxisomal matrix protein import;Collins;Mol Cell Biol,2000

4. Peroxisome mosaicism in the livers of peroxisomal deficiency patients;Espeel;Hepatology,1995

5. Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders;Espeel;Eur J Cell Biol,1995

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