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Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos, Laura; Bertelsen, Birgitte; Harris, Pernille; Bygum, Anette; Jensen, Hanne; Grønskov, Karen; Tümer, Zeynep.
Affiliation
  • Roos L; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, 2600, Denmark. laura.kirstine.soenderberg.roos@regionh.dk.
  • Bertelsen B; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, 2600, Denmark. birgitte.bertelsen@regionh.dk.
  • Harris P; Department of Chemistry, Technical University of Denmark, Kemitorvet Build. 207, DK-2800, Kgs. Lyngby, Denmark. ph@kemi.dtu.dk.
  • Bygum A; Department of Dermatology, Odense University Hospital, Odense, Denmark. Anette.Bygum@rsyd.dk.
  • Jensen H; Eye Clinic, Department of Ophthalmology, Copenhagen University Hospital, Glostrup, Denmark. hanne.jensen.08@regionh.dk.
  • Grønskov K; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, 2600, Denmark. karen.groenskov@regionh.dk.
  • Tümer Z; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, 2600, Denmark. Asuman.zeynep.tuemer@regionh.dk.
BMC Med Genet ; 16: 40, 2015 Jun 23.
Article in En | MEDLINE | ID: mdl-26099342
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteoglycans / Eye Diseases, Hereditary / Cornea / Corneal Diseases / Hyperopia / Hypotrichosis Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Denmark
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteoglycans / Eye Diseases, Hereditary / Cornea / Corneal Diseases / Hyperopia / Hypotrichosis Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Denmark