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Literature summary for 2.8.2.35 extracted from

  • Dündar, M.; Müller, T.; Zhang, Q.; Pan, J.; Steinmann, B.; Vodopiutz, J.; Gruber, R.; Sonoda, T.; Krabichler, B.; Utermann, G.; Baenziger, J.U.; Zhang, L.; Janecke, A.R.
    Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome (2009), Am. J. Hum. Genet., 85, 873-882.
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q8NCH0
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-

Synonyms

Synonyms Comment Organism
CHST14
-
 Homo sapiens
CHST14 protein
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 Homo sapiens
dermatan-4-sulfotransferase 1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction adducted thumb-clubfoot syndrome is genetically homogeneous and is caused by loss-of-function mutations in CHST14 leading to a deficiency of sulfated dermatan in affected tissues Homo sapiens