TY  - GEN
AU  - Faugère,Valérie
AU  - Tuffery-Giraud,Sylvie
AU  - Hamel,Christian
AU  - Claustres,Mireille
TI  - 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
SN  - 1471-2156
PY  - 2003///0307
KW  - Adult
KW  - Albinism, Ocular
KW  - diagnosis
KW  - Child
KW  - Chromosomes, Human, X
KW  - genetics
KW  - Computer Systems
KW  - Diagnostic Errors
KW  - Exons
KW  - Eye Proteins
KW  - Female
KW  - Gene Dosage
KW  - Genetic Carrier Screening
KW  - methods
KW  - Genetic Markers
KW  - Humans
KW  - Male
KW  - Membrane Glycoproteins
KW  - Mutation
KW  - Nystagmus, Congenital
KW  - Pedigree
KW  - Polymerase Chain Reaction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1471-2156-4-1
ER  -