Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis
- 1 March 1997
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 108 (3) , 241-247
- https://doi.org/10.1111/1523-1747.ep12286441
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of ItoNature Genetics, 1996
- The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/IIJournal of Investigative Dermatology, 1996
- Ehlers-Danlos Syndrome Type IV: A Genetic Disorder in Many GuisesJournal of Investigative Dermatology, 1995
- Expression of Type XIV Collagen During the Differentiation of Fetal Bovine Skin: Immunolabeling with Monoclonal Antibody Is Prominent in Morphogenetic AreasJournal of Investigative Dermatology, 1993
- Dermal collagen fibrils are hybrids of type I and type III collagen moleculesJournal of Structural Biology, 1990
- Type III collagen can be present on banded collagen fibrils regardless of fibril diameter.The Journal of cell biology, 1987
- The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.Journal of Medical Genetics, 1987
- Collagen Fibrillogenesis in Human SkinaAnnals of the New York Academy of Sciences, 1985
- Interaction Between Collagen Type I and Type III in Conditioning Bundles OrganizationConnective Tissue Research, 1977
- L’acrogéria est-elle une maladie du fibroblaste?Dermatology, 1974