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Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.
Low, Tisiana; Kostakis, Anastassios; Balasubramanian, Meena.
Affiliation
  • Low T; a Sheffield Teaching Hospitals NHS Foundation Trust , Sheffield , UK.
  • Kostakis A; b Department of Ophthalmology , Doncaster and Bassetlaw Hospital , Worksop , UK.
  • Balasubramanian M; c Sheffield Clinical Genetics Service , Sheffield Children's NHS Foundation Trust , Sheffield , UK.
Ophthalmic Genet ; 39(2): 286-287, 2018 04.
Article in En | MEDLINE | ID: mdl-29111861
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Carrier Proteins / Retinitis Pigmentosa / Mutation Limits: Adult / Female / Humans Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Carrier Proteins / Retinitis Pigmentosa / Mutation Limits: Adult / Female / Humans Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: United kingdom