Codons 837 and 838 in the Retinal Guanylate Cyclase Gene on Chromosome 17p: Hot Spots for Mutations in Autosomal Dominant Cone-Rod Dystrophy?
| Autor: | Albert Schinzel, Maike Weigell-Weber, Martin Hergersberg, Siv Fokstuen, Günter Niemeyer, Bèla Török |
|---|---|
| Přispěvatelé: | University of Zurich, Weigell-Weber, Maike |
| Rok vydání: | 2000 |
| Předmět: |
Male
Genetic Linkage 10039 Institute of Medical Genetics 610 Medicine & health Biology medicine.disease_cause Polymerase Chain Reaction chemistry.chemical_compound Genetic linkage Retinitis pigmentosa medicine Humans Point Mutation Codon Gene Genetics (clinical) Genetics Mutation Point mutation Retinal Degeneration Chromosome Retinal medicine.disease 2731 Ophthalmology Molecular biology Pedigree Ophthalmology chemistry Guanylate Cyclase 570 Life sciences biology Female Lod Score Chromosomes Human Pair 17 Photoreceptor Cells Vertebrate Guanylate cyclase |
| DOI: | 10.5167/uzh-234273 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|