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Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
Protas, Meredith E; Weh, Eric; Footz, Tim; Kasberger, Jay; Baraban, Scott C; Levin, Alex V; Katz, L Jay; Ritch, Robert; Walter, Michael A; Semina, Elena V; Gould, Douglas B.
Afiliação
  • Protas ME; Departments of Ophthalmology and Anatomy and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA.
  • Weh E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
  • Footz T; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
  • Kasberger J; Celgene Quanticel Research, San Francisco, CA 94158, USA.
  • Baraban SC; Department of Neurological Surgery, University of California, San Francisco, CA 94143, USA.
  • Levin AV; Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Katz LJ; Glaucoma Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Ritch R; Einhorn Clinical Research Center, The New York Eye and Ear Infirmary of Mount Sinai, New York, NY 10003, USA.
  • Walter MA; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
  • Semina EV; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
  • Gould DB; Departments of Ophthalmology and Anatomy and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Hum Mol Genet ; 26(18): 3630-3638, 2017 09 15.
Article em En | MEDLINE | ID: mdl-28911203

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades do Olho / Glaucoma / Proteínas de Homeodomínio Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades do Olho / Glaucoma / Proteínas de Homeodomínio Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article