Solving a 50 year mystery of a missing OPA1 mutation: More insights from the first family diagnosed with autosomal dominant optic atrophy

Molecular Neurodegeneration

Volumn 5, Issue 1, 2010, Pages

  Fuhrmann, Nico ^a   Schimpf, Simone ^a   Kamenisch, York ^a   Leo Kottler, Beate ^a   Alexander, Christiane ^b   Auburger, Georg ^c   Zrenner, Eberhart ^a   Wissinger, Bernd ^a   Alavi, Marcel V ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; GUANOSINE TRIPHOSPHATASE; MITOCHONDRIAL PROTEIN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL CULTURE; CYTOLOGY; EXON; FAMILY; FIBROBLAST; GENE DUPLICATION; GENE MUTATION; GENETICS; HUMAN; OPTIC NERVE ATROPHY; OPTIC NERVE DISEASE; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; PROTEIN PROCESSING; QUALITY CONTROL; SKIN BIOPSY; VISION;

EID: 77953348877     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/1750-1326-5-25     Document Type: Article

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