Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients

Open Access
Authors
  • P. Brites
  • A.M. Motley
  • E.M. Hogenhout
  • E.H. Hettema
  • F.A. Wijburg
  • H.S.A. Heymans
  • H.F. Tabak
  • B. Distel
  • R.J.A. Wanders
Publication date 1998
Journal Journal of inherited metabolic disease
Volume | Issue number 21
Pages (from-to) 306-308
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Note OBP
Published at https://doi.org/10.1023/A:1005301112923
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