RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. [electronic resource]
Producer: 20060616Description: 326-33 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Cilia -- physiology
- DNA Mutational Analysis
- Eye Proteins -- genetics
- Female
- Genetic Diseases, X-Linked -- diagnosis
- Genotype
- Humans
- Kartagener Syndrome -- complications
- Male
- Microsatellite Repeats
- Mutation
- Pedigree
- Phenotype
- Respiratory Mucosa -- ultrastructure
- Retinitis Pigmentosa -- complications
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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