Scientific Newsletter
Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
|
Retina International's Scientific Newsletter |
|
Mutation Database Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene |
Recent update from: 25.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| CLN1 | Leu 10 ter | T-A | 0029 | 1 |
Compound T75P R151X |
|
|
(1) | |
| CLN1 | Thr 75 Pro | A-C | 0223 | 1 |
Compound R151X L10X Homozygous |
|
|
(1) | |
| CLN1 | Asp 79 Gly | A-G | 0236 | 1 |
Compound R151X |
|
|
(1) | |
| CLN1 | Arg 151 ter | A-T | 0451 | 2 |
Compound D79G T75P L219Q |
|
|
(1) | |
| CLN1 | Leu 219 Gln | T-A | 0656 | 2 |
Compound R151X |
|
|
(1) |
References
1. Mitchison, H.M., Hofmann, S.L., Becerra, C.H.R., Munroe, P.B., Lake, B.D., Crow, Y.J., Stephenson, J.B.P., Williams, R.E., Hofman, I.L., Taschner, P.E.M., Martin, J.J., Philippart, M., Andermann, E., Andermann, F., Mole, S.E., Gardiner, R.M., Orawe, A.M., Becerra, C.H., Stephenson, J.B., and O'Rawe, A.M. Mutations In The Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits. 1998; Hum.Mol.Genet. 7: 291 - 297.
Goto Top Link to PudMed
|
|
Return to Retina International's Scientific Newsletter |
Return to Mutation Database Page |
Return to pagehead |
Contact the editor: irpamp@irpa.org |
Return to Database Page |
This site is maintained and edited by
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 |
|