A. Richards

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

H. Kuivaniemi, G. Tromp, P. Narcisi, 1993, American journal of medical genetics.

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

A. De Paepe, J. Lloyd, P. Narcisi, 1991, Journal of medical genetics.

The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

J. Lloyd, P. Narcisi, A. Richards, 1993, Journal of medical genetics.

Ehlers-Danlos Syndrome, Type IV

P. Narcisi, Carole Ferguson, F. Michael, 2020, Definitions.