Premium
Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/ CHST14 ) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”
Author(s) -
Janecke Andreas R.,
Baenziger Jacques U.,
Müller Thomas,
Dündar Munis
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21440
Subject(s) - dermatan sulfate , medicine , medical genetics , biology , genetics , anatomy , glycosaminoglycan , heparan sulfate , gene