Point mutation tRNASer(UCN) in a child with hearing loss and myoclonus epilepsy

Journal of Child Neurology

Volumn 21, Issue 3, 2006, Pages 253-255

  Ramelli, Gian Paolo ^a   Gallati, Sabina ^b   Weis, Joachim ^b   Krähenbühl, Stephan ^c   Burgunder, Jean Marc ^b  

^a OSPEDALE SAN GIOVANNI   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIOXIDANT; ASCORBIC ACID; CYTOCHROME C OXIDASE; CYTOSINE; INSULIN; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SERINE TRANSFER RNA; THYMINE; UBIQUINONE; VALPROIC ACID;

ARTICLE; ATAXIA; BASE PAIRING; BIOCHEMISTRY; BLOOD ANALYSIS; BLOOD SAMPLING; CASE REPORT; CELL ULTRASTRUCTURE; CEREBROSPINAL FLUID ANALYSIS; DIABETES MELLITUS; DISEASE SEVERITY; DNA DETERMINATION; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; FAMILY STUDY; GENETIC CONSERVATION; GROWTH DISORDER; HEARING LOSS; HETEROPLASMY; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOCLONUS EPILEPSY; NUCLEIC ACID BASE SUBSTITUTION; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR RETARDATION; RESPIRATORY CHAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SKELETAL MUSCLE; SYMPTOM;

CHILD; DIABETES MELLITUS; EPILEPSIES, MYOCLONIC; HEARING LOSS; HUMANS; MALE; MOTHERS; POINT MUTATION; PSYCHOMOTOR DISORDERS; RNA, TRANSFER, SER;

EID: 33745140880     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.2310/7010.2006.00047     Document Type: Article

References (14)

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