Mutational Spectrum in thePEX7Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1


Alison M. Motley,Pedro Brites,Lisya Gerez,Eveline Hogenhout,Janet Haasjes,Rob Benne,Henk F. Tabak,Ronald J.A. Wanders,Hans R. Waterham


The American Journal of Human Genetics




March 2002

Copyright © 2002, Elsevier

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