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A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia
  1. Correspondence to:
 G Rappold
 Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg,Germany; gudrun_rappoldmed.uni-heidelberg.de
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Citation

Sabherwal N, Blaschke RJ, Marchini A, et al
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia

Publication history

  • Accepted December 18, 2003
  • Revised December 16, 2003
  • First published June 1, 2004.
Online issue publication 
June 01, 2004

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