Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

American Journal of Human Genetics

Volumn 88, Issue 5, 2011, Pages 635-642

  Götz, Alexandra ^a   Tyynismaa, Henna ^a   Euro, Liliya ^a   Ellonen, Pekka ^a   Hyötyläinen, Tuulia ^b   Ojala, Tiina ^a   Hämäläinen, Riikka H ^a   Tommiska, Johanna ^c,d   Raivio, Taneli ^c,d   Oresic, Matej ^b   Karikoski, Riitta ^a,e   Tammela, Outi ^f   Simola, Kalle O J ^f   Paetau, Anders ^a,e   Tyni, Tiina ^a,e   Suomalainen, Anu ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b VTT TECHNICAL RESEARCH CENTRE OF FINLAND   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALANINE TRANSFER RNA LIGASE; CARNITINE; CYTOCHROME C OXIDASE; GLYCINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SERINE;

AMINO ACID SUBSTITUTION; AMINOACYLATION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; EXOME; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INFANTILE MITOCHONDRIAL CARDIOMYOPATHY; METABOLIC ACIDOSIS; MISSENSE MUTATION; MOLECULAR RECOGNITION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SIBLING; VITAMIN SUPPLEMENTATION;

ALANINE-TRNA LIGASE; BASE PAIRING; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY;

EID: 79955797332     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.006     Document Type: Article

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