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Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Haider, N B; Jacobson, S G; Cideciyan, A V; Swiderski, R; Streb, L M; Searby, C; Beck, G; Hockey, R; Hanna, D B; Gorman, S; Duhl, D; Carmi, R; Bennett, J; Weleber, R G; Fishman, G A; Wright, A F; Stone, E M; Sheffield, V C.
Affiliation
  • Haider NB; Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, USA.
Nat Genet ; 24(2): 127-31, 2000 Feb.
Article in En | MEDLINE | ID: mdl-10655056
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Collection: 01-internacional Database: MEDLINE Main subject: Retinal Degeneration / Transcription Factors / Sequence Deletion / Receptors, Cytoplasmic and Nuclear / Retinal Cone Photoreceptor Cells / Mutation Type of study: Etiology_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: Country of publication:
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Collection: 01-internacional Database: MEDLINE Main subject: Retinal Degeneration / Transcription Factors / Sequence Deletion / Receptors, Cytoplasmic and Nuclear / Retinal Cone Photoreceptor Cells / Mutation Type of study: Etiology_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: Country of publication: