De novo double mutation in PAX6 and mtDNA tRNALys associated with atypical aniridia and mitochondrial disease

Journal of Molecular Medicine

Volumn 85, Issue 2, 2007, Pages 163-168

  Brinckmann, Anja ^a,b   Rüther, Klaus ^b   Williamson, Kathleen ^c   Lorenz, Birgit ^d   Lucke, Barbara ^b   Nürnberg, Peter ^e   Trijbels, Frans ^f   Janssen, Antoon ^f   Schuelke, Markus ^b  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Heteroplasmy; mtDNA; Nystagmus; PAX6; Ptosis; Pyrosequencing

Indexed keywords

MITOCHONDRIAL DNA; TRANSCRIPTION FACTOR PAX6; TRANSFER RNA;

ADOLESCENT; ANAMNESIS; ANIRIDIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; ELECTRORETINOGRAPHY; GENE MUTATION; HETEROPLASMY; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION;

ADOLESCENT; ANIRIDIA; CELLS, CULTURED; DNA, MITOCHONDRIAL; EYE PROTEINS; FIBROBLASTS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MITOCHONDRIAL DISEASES; MUSCLES; MUTATION; OXYGEN CONSUMPTION; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; RNA, TRANSFER, LYS;

EID: 33846595613     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-006-0112-y     Document Type: Article

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