Human mutation
- Label
- Human mutation (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Comprehensive mutationanalysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. (Articolo in rivista) (Prodotto della ricerca)
- Correlation Assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene (Articolo in rivista) (Prodotto della ricerca)
- Alternative label
- Human mutation (literal)
- Human mutat. (literal)
- Language
- eng (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn
- 1098-1004 (literal)
- Preferred label
- Human mutation (literal)
- Publisher
- Wiley-Liss, Inc., [New York, N.Y.] : USA (literal)
Incoming links:
- Rivista
- Correlation Assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene (Articolo in rivista) (Prodotto della ricerca)
- Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. (Articolo in rivista) (Prodotto della ricerca)
- Comprehensive mutationanalysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
