| 1 | MFSV |
| A substitution at a non-glycine position in the triple-helical domain of pro-alpha-2(I) collagen chains present in an individual with a variant of the Marfan syndrome. | |
| Phillips CL, et al. | |
| J Clin Invest 86 : 1723-1728. 1990 | |
| 2 | MFSV |
| Marfan syndrome :an abnormal alpha-2 chain in type I collagen. | |
| Byers PH, et al. | |
| Proc Natl Acad Sci U S A 78 : 7745-7749. 1981 | |