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Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
Shankar, Suma P; Birch, David G; Ruiz, Richard S; Hughbanks-Wheaton, Dianna K; Sullivan, Lori S; Bowne, Sara J; Stone, Edwin M; Daiger, Stephen P.
Afiliación
  • Shankar SP; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston2Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute.
  • Birch DG; Retina Foundation of the Southwest, Dallas, Texas.
  • Ruiz RS; Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston.
  • Hughbanks-Wheaton DK; Retina Foundation of the Southwest, Dallas, Texas.
  • Sullivan LS; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston.
  • Bowne SJ; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston.
  • Stone EM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute, University of Iowa, Iowa City.
  • Daiger SP; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston6Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston.
JAMA Ophthalmol ; 133(5): 511-7, 2015 May.
Article en En | MEDLINE | ID: mdl-25675413
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Sitios de Empalme de ARN / Distrofias Retinianas / Periferinas / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: JAMA Ophthalmol Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Sitios de Empalme de ARN / Distrofias Retinianas / Periferinas / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: JAMA Ophthalmol Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos