Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Title
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
Authors
Keywords
Ehlers-Danlos syndrome, Osteogenesis Imperfecta, Type I collagen, Arterial fragility, Genotype, Phenotype
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 78
Publisher
Springer Nature
Online
2013-05-21
DOI
10.1186/1750-1172-8-78

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