Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith L, Wertelecki W, Milstone L, Petty E, Seashore M, Braverman I, Jenkins T, Byers P. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal Of Human Genetics 1992, 51: 235-44. PMID: 1642226, PMCID: PMC1682688.Peer-Reviewed Original ResearchMeSH KeywordsAmino AcidsCells, CulturedCollagenEhlers-Danlos SyndromeElectrophoresis, Polyacrylamide GelFemaleFibroblastsGenetic Complementation TestHumansHydrolysisInfantMicroscopy, ElectronProcollagenRNA Processing, Post-TranscriptionalSkinConceptsAmino-terminal propeptideFragile skinType IConnective tissue disordersEhlers-Danlos syndromeLax jointsType VIIAffected animalsSkinChildrenCultured fibroblastsNormal cellsEhlers-Danlos syndrome type VIIPro alphaDisordersPropeptideAlphaDermatosparaxisProteolytic processingSepsisN-proteinaseCellsSyndromeCollagen fibrils