GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:16646960
| Citation |
Mayeur, H, Roche, O, Vêtu, C, Jaliffa, C, Marchant, D, Dollfus, H, Bonneau, D, Munier, FL, Schorderet, DF, Levin, AV, Héon, E, Sutherland, J, Lacombe, D, Said, E, Mezer, E, Kaplan, J, Dufier, JL, Marsac, C, Menasche, M and Abitbol, M (2006) Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med. Genet. 7:41 |
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| Abstract |
Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. |
| Links |
PubMed PMC1468396 Online version:10.1186/1471-2350-7-41 |
| Keywords |
Albinism, Ocular/genetics; Amino Acid Sequence; DNA Mutational Analysis; Eye Proteins/genetics; Female; Humans; Male; Membrane Glycoproteins/genetics; Molecular Sequence Data; Mutation; Pedigree; Point Mutation; RNA Splice Sites; Sequence Deletion |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
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See also
References
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