A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
Open Access
- 1 September 1996
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (9), 1339-1343
- https://doi.org/10.1093/hmg/5.9.1339