Heterozygosity for a point mutation in COL1A1 causing a R618H substitution in α1(I) chains does not result in Marfan syndrome but may produce mild weakness of connective tissues
- 30 September 1994
- journal article
- meeting abstracts
- Published by Elsevier BV in Matrix Biology
- Vol. 14 (5), 385
- https://doi.org/10.1016/0945-053x(94)90102-3