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

BACKGROUND: X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystag...

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Detalles Bibliográficos
Autores principales: Faugère, Valérie, Tuffery-Giraud, Sylvie, Hamel, Christian, Claustres, Mireille
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2003
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC140306/
https://www.ncbi.nlm.nih.gov/pubmed/12515581
http://dx.doi.org/10.1186/1471-2156-4-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC140306/
https://www.ncbi.nlm.nih.gov/pubmed/12515581
http://dx.doi.org/10.1186/1471-2156-4-1

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