Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram
| Autor: | Edwin M. Stone, Richard G. Weleber, Gerald A. Fishman, Peter J. Francis, Ian M. MacDonald, Karmen M Trzupek |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Electrodiagnosis Protein Prenylation Biology medicine.disease_cause Choroideremia Retina Exon medicine Electroretinography Humans Child Gene Adaptor Proteins Signal Transducing Genetics Mutation Alkyl and Aryl Transferases medicine.diagnostic_test Exons medicine.disease Pedigree Ophthalmology Phenotype Codon Nonsense rab GTP-Binding Proteins |
| Zdroj: | Archives of ophthalmology (Chicago, Ill. : 1960). 123(8) |
| ISSN: | 0003-9950 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|