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Dymeclin, the Gene Underlying Dyggve-Melchior-Clausen Syndrome, Encodes a Protein Integral to Extracellular Matrix and Golgi Organization and is Associated with Protein Secretion Pathways Critical in Bone Development

Denais, C; Dent, CL; Southgate, L; Hoyle, J; Dafou, D; Trembath, RC; Machado, RD; (2011) Dymeclin, the Gene Underlying Dyggve-Melchior-Clausen Syndrome, Encodes a Protein Integral to Extracellular Matrix and Golgi Organization and is Associated with Protein Secretion Pathways Critical in Bone Development. HUMAN MUTATION , 32 (2) pp. 231-239. 10.1002/humu.21413.

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Type: Article
Title: Dymeclin, the Gene Underlying Dyggve-Melchior-Clausen Syndrome, Encodes a Protein Integral to Extracellular Matrix and Golgi Organization and is Associated with Protein Secretion Pathways Critical in Bone Development
DOI: 10.1002/humu.21413
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Dymeclin, Skeletal dysplasia, secretion, chondrogenesis, Golgi, SMITH-MCCORT-DYSPLASIA, CELL-FREE SYSTEM, MENTAL-RETARDATION, CYCLOPHILIN-B, GROWTH-PLATE, MUTATIONS, STACKING, DISORDERS, ZEBRAFISH, CISTERNAE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Respiratory Medicine
URI: http://discovery.ucl.ac.uk/id/eprint/1517353
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