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.

Faugère, Valérie

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] - BMC genetics Jan 2003 - 1 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1471-2156

10.1186/1471-2156-4-1 doi


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