Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis
- 16 March 1999
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 256 (2) , 317-319
- https://doi.org/10.1006/bbrc.1999.0323
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Positional cloning of the gene associated with X-linked juvenile retinoschisisNature Genetics, 1997
- Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.Journal of Medical Genetics, 1997
- Improved genetic mapping of X linked retinoschisis.Journal of Medical Genetics, 1996
- Linkage Mapping of New X-Linked Juvenile Retinoschisis Kindreds Using Microsatellite MarkersBiochemical and Biophysical Research Communications, 1996
- Clinical Features in Affected Males With X-Linked RetinoschisisArchives of Ophthalmology (1950), 1996
- A NEW CLASSIFICATION OF THE RETINOSCHISESRetina, 1995
- Refined Genetic Mapping of Juvenile X-Linked RetinoschisisHuman Heredity, 1995
- Nonsense mutations in the human beta-globin gene affect mRNA metabolism.Proceedings of the National Academy of Sciences, 1988
- mRNA-deficint β°-thaladssemia results from a single nucleotide deletionNucleic Acids Research, 1982
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.Proceedings of the National Academy of Sciences, 1981