Disease Database Miscellaneous

Recent update from: 10.03.04

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Barrett,D.J., Bateman,J.B., Sparkes,R.S., Mohandas,T., Klisak,I., and Inana,G. Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. 1987; Invest.Ophthalmol.Vis.Sci. 28: 1037-1042.
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2. Cremers,F.P., van de Pol,D.J., van Kerkhoff,L.P., Wieringa,B., and Ropers,H.H. Cloning of a gene that is rearranged in patients with choroideremia. 1990; Nature. 347: 674-677.
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3. Mashima,Y., Weleber,R.G., Kennaway,N.G., and Inana,G. A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. 1992; Hum.Genet. 90: 305-307.
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4. Mitchell,G.A., Labuda,D., Fontaine,G., Saudubray,J.M., Bonnefont,J.P., Lyonnet,S., Brody,L.C., Steel,G., Obie,C., and Valle,D. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 815-819.
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5. Mitchell,G.A., Looney,J.E., Brody,L.C., Steel,G., Suchanek,M., Engelhardt,J.F., Willard,H.F., and Valle,D. Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. 1988; J.Biol.Chem. 263: 14288-14295.
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6. Narcisi,T.M., Shoulders,C.C., Chester,S.A., Read,J., Brett,D.J., Harrison,G.B., Grantham,T.T., Fox,M.F., Povey,S., and de Bruin,T.W. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 1995; Am.J.Hum.Genet. 57: 1298-1310.
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7. Park,J.K., O'Donnell,J.J., Shih,V.E., Gusella,J.F., and Ramesh,V. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. 1992; Hum.Mutat. 1: 293-297.
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8. Seabra,M.C., Brown,M.S., Slaughter,C.A., Sudhof,T.C., and Goldstein,J.L. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. 1992; Cell. 70: 1049-1057.
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9. Seabra,M.C., Ho,Y.K., and Anant,J.S. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. 1995; J.Biol.Chem. 270: 24420-24427.
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