Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

Authors :: Schwarze, Ulrike
Schievink, Wouter I.
Petty, Elizabeth
Jaff, Michael R.
Babovic-Vuksanovic, Dusica
Cherry, Kenneth J.
Pepin, Melanie
Byers, Peter H.
Source :: American Journal of Human Genetics. Nov, 2001, Vol. 69 Issue 5, p989, 13 p.
Publication Year :: 2001

Subjects :: Human genetics -- Research
Genetic disorders -- Research
Cartilage -- Abnormalities
Ehlers-Danlos syndrome -- Research
Blood vessels -- Abnormalities
Gene mutations -- Observations
Biological sciences

Tools