Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Open Access
Authors
  • A.M. Motley
  • P. Brites
  • L. Gerez
  • E.M. Hogenhout
  • J. Haasjes
  • R. Benne
  • H.F. Tabak
  • R.J.A. Wanders
  • H.R. Waterham
Publication date 2002
Journal American Journal of Human Genetics
Volume | Issue number 70
Pages (from-to) 612-624
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Published at https://doi.org/10.1086/338998
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