Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram

Peter J. Francis, Gerald A. Fishman, Karmen M. Trzupek, Ian M. MacDonald, Edwin M. Stone, Richard Weleber

Research output: Contribution to journalArticle

9 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)1146-1149
Number of pages4
JournalArchives of Ophthalmology
Volume123
Issue number8
DOIs
StatePublished - Aug 2005

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Signal Transducing Adaptor Proteins
Choroideremia
Alkyl and Aryl Transferases
Protein Prenylation
rab GTP-Binding Proteins
Electroretinography
Nonsense Codon
Pedigree
Retina
Exons
Phenotype
Mutation
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. / Francis, Peter J.; Fishman, Gerald A.; Trzupek, Karmen M.; MacDonald, Ian M.; Stone, Edwin M.; Weleber, Richard.

In: Archives of Ophthalmology, Vol. 123, No. 8, 08.2005, p. 1146-1149.

Research output: Contribution to journalArticle

Francis, Peter J. ; Fishman, Gerald A. ; Trzupek, Karmen M. ; MacDonald, Ian M. ; Stone, Edwin M. ; Weleber, Richard. / Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. In: Archives of Ophthalmology. 2005 ; Vol. 123, No. 8. pp. 1146-1149.
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