Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
Francis
Peter J
PJ
Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239-4197, USA.
Fishman
Gerald A
GA
Trzupek
Karmen M
KM
MacDonald
Ian M
IM
Stone
Edwin M
EM
Weleber
Richard G
RG
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
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D018389:Codon, Nonsense; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins