Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (European Journal of Human Genetics (2012) 20 (897-904) DOI:10.1038/ejhg.2012.44);Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 897-904

  Tuppen, Helen A L ^a   Naess, Karin ^b   Kennaway, Nancy G ^c   Al Dosary, Mazhor ^a   Lesko, Nicole ^b   Yarham, John W ^a   Bruhn, Helene ^b   Wibom, Rolf ^b   Nennesmo, Inger ^b   Weleber, Richard G ^c   Blakely, Emma L ^a   Taylor, Robert W ^a   McFarland, Robert ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b KAROLINSKA INSTITUTE   (Sweden)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

deafness; mutation; retinitis pigmentosa

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROSTAGLANDIN SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; CAUCASIAN; CHILD; COGNITIVE DEFECT; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; FATIGUE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HISTOCHEMISTRY; HUMAN; HUMAN CELL; HUMAN TISSUE; MTTS2 GENE; MUSCLE BIOPSY; MYOPATHY; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PATHOGENICITY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA DEGENERATION; RNA STABILITY; SYMPTOM;

EID: 84864142018     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.123     Document Type: Erratum

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