A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA
Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7. PubMed Article
Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA
Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7. PubMed Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 89236 | pDsred monomer C1- MLPH | Expression of Dsred-tagged human Melanophilin in mammalian cells |
| 89237 | GFP-Rab27A | Expression of GFP-tagged human Rab27A in mammalian cells |