Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine (UCN) mutation

Pediatric Research

Volumn 72, Issue 1, 2012, Pages 90-94

  Götz, Alexandra ^a   Isohanni, Pirjo ^a,b   Liljeström, Brita ^c   Rummukainen, Jaana ^c   Nikolajev, Kari ^c   Herrgård, Eila ^c   Marjavaara, Sanna ^a   Suomalainen, Anu ^a,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SERINE TRANSFER RNA;

ARTICLE; AUTOPSY; BRAIN; CASE REPORT; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; FAMILY HISTORY; HEART; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; LIVER; MALE; MATHEMATICAL MODEL; MICROSCOPY; NEWBORN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PLACENTA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RESPIRATORY CHAIN; RNA STABILITY; SKELETAL MUSCLE;

ACIDOSIS, LACTIC; BASE PAIRING; BASE SEQUENCE; BLOTTING, NORTHERN; DNA, MITOCHONDRIAL; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RNA, TRANSFER, SER; SEQUENCE ANALYSIS, DNA;

EID: 84862580048     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2012.43     Document Type: Article

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