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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...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2003
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| 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 |