title: Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
authors.affiliation: Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239-4197, USA.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Francis
authors.forename: Gerald A
authors.initials: GA
authors.lastname: Fishman
authors.forename: Karmen M
authors.initials: KM
authors.lastname: Trzupek
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Richard G
authors.initials: RG
authors.lastname: Weleber
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D002648:Child; D015794:Choroideremia / Q000235:genetics* / Q000503:physiopathology*; D018389:Codon, Nonsense; D004596:Electroretinography; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017368:Protein Prenylation / Q000235:genetics; D012160:Retina / Q000502:physiology*; D020691:rab GTP-Binding Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D018389:Codon, Nonsense; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins