A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
- 1 April 1994
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (4) , 655-656
- https://doi.org/10.1093/hmg/3.4.655