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  • Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Authors

  1. Dr S Ikegawa, Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4-6-1 Shirokane-dai, Minato-ku, Tokyo 108-8639, Japan; sikegawa{at}ims.u-tokyo.ac.jp
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Citation

Furuichi T, Kayserili H, Hiraoka S, et al
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
Journal of Medical Genetics 2009;46:562-568.

Publication history

  • Received December 3, 2008
  • Revised April 4, 2009
  • Accepted April 29, 2009
  • First published June 8, 2009.
Online issue publication 
April 27, 2016

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2009 BMJ Publishing Group