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A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

Publication ,  Conference
Antaki, F; Coussa, RG; Chakarova, C; Wakil, S; Sun, V; Lachapelle, P; Dorfman, A; Lopez, I; Kamenarova, K; Bhattacharya, SS; Koenekoop, RK
Published in: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
September 1, 2016

Published In

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

EISSN

1552-5783

ISSN

0146-0404

Publication Date

September 1, 2016

Volume

57

Issue

12

Location

Seattle, WA

Publisher

ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Conference Name

Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)

Related Subject Headings

  • Ophthalmology & Optometry
  • 3212 Ophthalmology and optometry
  • 11 Medical and Health Sciences
  • 06 Biological Sciences
 

Citation

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Chicago
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Antaki, F., Coussa, R. G., Chakarova, C., Wakil, S., Sun, V., Lachapelle, P., … Koenekoop, R. K. (2016). A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP). In INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (Vol. 57). Seattle, WA: ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
Antaki, Fares, Razek Georges Coussa, Christina Chakarova, Susan Wakil, Vincent Sun, Pierre Lachapelle, Allison Dorfman, et al. “A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP).” In INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 57. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 2016.
Antaki F, Coussa RG, Chakarova C, Wakil S, Sun V, Lachapelle P, et al. A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP). In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. ASSOC RESEARCH VISION OPHTHALMOLOGY INC; 2016.
Antaki, Fares, et al. “A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP).” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 57, no. 12, ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 2016.
Antaki F, Coussa RG, Chakarova C, Wakil S, Sun V, Lachapelle P, Dorfman A, Lopez I, Kamenarova K, Bhattacharya SS, Koenekoop RK. A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP). INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. ASSOC RESEARCH VISION OPHTHALMOLOGY INC; 2016.

Published In

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

EISSN

1552-5783

ISSN

0146-0404

Publication Date

September 1, 2016

Volume

57

Issue

12

Location

Seattle, WA

Publisher

ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Conference Name

Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)

Related Subject Headings

  • Ophthalmology & Optometry
  • 3212 Ophthalmology and optometry
  • 11 Medical and Health Sciences
  • 06 Biological Sciences