An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

S. H. Chavala, A. Sari, H. Lewis, G. J.T. Pauer, E. Simpson, S. A. Hagstrom, E. I. Traboulsi

Research output: Contribution to journalArticle

26 Citations (Scopus)
Original languageEnglish
Pages (from-to)1065-1066
Number of pages2
JournalBritish Journal of Ophthalmology
Volume89
Issue number8
DOIs
StatePublished - 1 Aug 2005

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Hereditary Eye Diseases
Retinal Degeneration
Cytoplasmic and Nuclear Receptors
Point Mutation
Transcription Factors
Mutation
Enhanced S-Cone Syndrome

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Chavala, S. H., Sari, A., Lewis, H., Pauer, G. J. T., Simpson, E., Hagstrom, S. A., & Traboulsi, E. I. (2005). An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. British Journal of Ophthalmology, 89(8), 1065-1066. https://doi.org/10.1136/bjo.2005.068130
Chavala, S. H. ; Sari, A. ; Lewis, H. ; Pauer, G. J.T. ; Simpson, E. ; Hagstrom, S. A. ; Traboulsi, E. I. / An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. In: British Journal of Ophthalmology. 2005 ; Vol. 89, No. 8. pp. 1065-1066.
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Chavala, SH, Sari, A, Lewis, H, Pauer, GJT, Simpson, E, Hagstrom, SA & Traboulsi, EI 2005, 'An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome', British Journal of Ophthalmology, vol. 89, no. 8, pp. 1065-1066. https://doi.org/10.1136/bjo.2005.068130

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. / Chavala, S. H.; Sari, A.; Lewis, H.; Pauer, G. J.T.; Simpson, E.; Hagstrom, S. A.; Traboulsi, E. I.

In: British Journal of Ophthalmology, Vol. 89, No. 8, 01.08.2005, p. 1065-1066.

Research output: Contribution to journalArticle

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AU - Simpson, E.

AU - Hagstrom, S. A.

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