APEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents


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


The American Journal of Human Genetics




April 2002

Copyright © 2002, Elsevier

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