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
<p>Abstract</p> <p>Background</p> <p>X-linked ocular albinism type 1 (OA1) is caused by mutations in <it>OA1 </it>gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic chang...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2003-01-01
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| Series: | BMC Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2156/4/1 |