Gene symbol: COL1A2.  Disease: Ehlers-Danlos syndrome type VIIB.
University Children’s Hospital, Metabolism and Molecular Pediatrics, Steinwiesstrasse, 75, 8032, Zurich, Switzerland. cecilia.giunta@kispi.uzh.ch
Cecilia
C
Giunta
Beat
B
Steinmann
D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D022821:RNA Splice Sites / Q000235:genetics
D024042:Collagen Type I; D022821:RNA Splice Sites; D003094:Collagen