Rivolta, Carlo and Sharon, Dror and DeAngelis, Margaret M. and Dryja, Thaddeus P.. (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human Molecular Genetics, 11 (10). pp. 1219-1227.
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Abstract
Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.
| Faculties and Departments: | 03 Faculty of Medicine 09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB) |
|---|---|
| UniBasel Contributors: | Rivolta, Carlo |
| Item Type: | Article, refereed |
| Article Subtype: | Research Article |
| Publisher: | Oxford University Press |
| ISSN: | 0964-6906 |
| e-ISSN: | 1460-2083 |
| Note: | Publication type according to Uni Basel Research Database: Journal article |
| Language: | English |
| Related URLs: | |
| Identification Number: |
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| edoc DOI: | |
| Last Modified: | 26 Feb 2021 10:56 |
| Deposited On: | 26 Feb 2021 10:56 |
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