Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. [electronic resource]
Producer: 20030307Description: 1 p. digitalISSN:- 1471-2156
- Adult
- Albinism, Ocular -- diagnosis
- Child
- Chromosomes, Human, X -- genetics
- Computer Systems
- Diagnostic Errors
- Exons -- genetics
- Eye Proteins -- genetics
- Female
- Gene Dosage
- Genetic Carrier Screening -- methods
- Genetic Markers -- genetics
- Humans
- Male
- Membrane Glycoproteins -- genetics
- Mutation -- genetics
- Nystagmus, Congenital -- diagnosis
- Pedigree
- Polymerase Chain Reaction -- methods
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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