Identification of a mutation in LARS as a novel cause of infantile hepatopathy

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 351-358

  Casey, Jillian P ^a,b   McGettigan, Paul ^b   Lynam Lennon, Niamh ^c   McDermott, Michael ^a   Regan, Regina ^a,b   Conroy, Judith ^a,b   Bourke, Billy ^a,b   Sullivan, Jacintha O' ^c   Crushell, Ellen ^d   Lynch, SallyAnn ^a,d   Ennis, Sean ^a,b  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c TRINITY COLLEGE DUBLIN   (Ireland)

^d CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Aminoacyl tRNA synthetase; Infantile hepatopathy; Irish Traveller; LARS; Mitochondrial; Multisystem presentation

Indexed keywords

LEUCINE TRANSFER RNA LIGASE;

ACUTE LIVER FAILURE; ANEMIA; ARTICLE; BRONCHOPNEUMONIA; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DETERIORATION; EXOME; FAILURE TO THRIVE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC ANALYSIS; GENETIC RISK; GROWTH DISORDER; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; INFANT DISEASE; INFANTILE HEPATOPATHY; KIDNEY TUBULE DISORDER; LARS GENE; LIVER DISEASE; LIVER FUNCTION; MISSENSE MUTATION; MITOCHONDRION; PHYSIOLOGICAL STRESS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEIZURE;

ADOLESCENT; ADULT; AMINO ACYL-TRNA SYNTHETASES; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CYTOPLASM; HEK293 CELLS; HOMOZYGOTE; HUMANS; INFANT; LEUCINE; LIVER FAILURE; LIVER FAILURE, ACUTE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84862515350     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.017     Document Type: Article

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