Associated Papers
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
Schwarze U et al.
American Journal of Human Genetics, 2000
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
Richards AJ et al.
Journal of Medical Genetics, 1998
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