Scientific Newsletter
Mutations of the Chediak Higashi Syndrome
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Chediak Higashi Syndrome |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| CHS | Ala 40 insG | GCA-GGCA | Homozygous |
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(1) | |||
| CHS | Arg 1103 ter | CGA-TGA | Homozygous |
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(1) | |||
| CHS | Glu 489 delG | GAGCAA-GA_CAA | Homozygous |
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(1) |
References
1. Nagle, D.L., Karim, M.A., Woolf, E.A., Holmgren, L., Bork, P., Musini, D.J., McGrail, S.H., Dussault, B.J., Perou, C.M., Boissy, R.E., Duyk, G.M., Spritz, R.A., and Moore, K.J. Identification and Mutation Analysis of the Complete Gene for Chediak-Higashi Syndrome. 1996; Nat.Genet. 14: 307 - 311.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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