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Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome
Munis Dündar, Thomas Müller, Qi Zhang,
Jing Pan
, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques Baenziger, Lijuan Zhang, Andreas Janecke
Year
2009
Venue
The American Journal of Human Genetics
Type
article
Citations
141
DOI
10.1016/j.ajhg.2009.11.010
OpenAlex
W2024255105
Topics
Proteoglycans and glycosaminoglycans research
Dermatan sulfate
Iduronic acid
Nonsense mutation
Genetics
Missense mutation