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De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
Brinckmann, Anja; Rüther, Klaus; Williamson, Kathleen; Lorenz, Birgit; Lucke, Barbara; Nürnberg, Peter; Trijbels, Frans; Janssen, Antoon; Schuelke, Markus.
Affiliation
  • Brinckmann A; Department of Biology, Chemistry and Pharmacy, Free University Berlin, Berlin, Germany.
J Mol Med (Berl) ; 85(2): 163-8, 2007 Feb.
Article in En | MEDLINE | ID: mdl-17031679
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Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / DNA, Mitochondrial / RNA, Transfer, Lys / Aniridia / Homeodomain Proteins / Mitochondrial Diseases / Paired Box Transcription Factors / Eye Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: J Mol Med (Berl) Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Germany Country of publication: Germany
Search on Google
Add to My VHL
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / DNA, Mitochondrial / RNA, Transfer, Lys / Aniridia / Homeodomain Proteins / Mitochondrial Diseases / Paired Box Transcription Factors / Eye Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: J Mol Med (Berl) Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Germany Country of publication: Germany