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Article

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

American journal of human genetics - 1 Aug 1999

Colige A, Sieron A L, Li S W, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn D H, Reardon W, Byers P H, Lapière C M, Prockop D J, Nusgens B V

Abstract excerpt

Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II...

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Identifiers

PMID: 10417273
DOI: 10.1086/302504
PMCID: PMC1377929

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.PMID 10417273Read ↗

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