Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Autor: Bowne, Sara J., Daiger, Stephen P., Hims, Matthew M., Sohocki, Melanie M., Malone, Kimberly A., McKie, Arthur B., Heckenlively, John R., Birch, David G., Inglehearn, Chris F., Bhattacharya, Shomi S., Bird, Alan, Sullivan, Lori S.
Zdroj: Human Molecular Genetics; Oct99, Vol. 8 Issue 11, p2121, 8p
Abstrakt: Studies the types and frequency mutations in the RP1 gene responsible for automosomal dominant retinitis pigmentosa (RP). Link of RP1 mutations to other retinal diseases; Effects of the mutations on proteins; Prevalence in families with autosomal dominant RP.
Databáze: Complementary Index