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

标题
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
作者
关键词
Ehlers-Danlos syndrome, Osteogenesis Imperfecta, Type I collagen, Arterial fragility, Genotype, Phenotype
出版物
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 78
出版商
Springer Nature
发表日期
2013-05-21
DOI
10.1186/1750-1172-8-78

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