Literature DB >> 21309034

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".

Andreas R Janecke, Jacques U Baenziger, Thomas Müller, Munis Dündar.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21309034     DOI： 10.1002/humu.21440

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  2 in total

1.  Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Authors:  N C Voermans; M Kempers; M Lammens; N van Alfen; M C Janssen; C Bönnemann; B G van Engelen; B C Hamel
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

2.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  Andreas R Janecke; Ben Li; Manfred Boehm; Birgit Krabichler; Marianne Rohrbach; Thomas Müller; Irene Fuchs; Gretchen Golas; Yasuhiro Katagiri; Shira G Ziegler; William A Gahl; Yael Wilnai; Nicoletta Zoppi; Herbert M Geller; Cecilia Giunta; Anne Slavotinek; Beat Steinmann
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.