Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

American Journal of Human Genetics

Volumn 92, Issue 4, 2013, Pages 614-620

  Pierce, Sarah B ^a   Gersak, Ksenija ^b   Michaelson Cohen, Rachel ^c   Walsh, Tom ^a   Lee, Ming K ^a   Malach, Daniel ^d   Klevit, Rachel E ^e   King, Mary Claire ^a   Levy Lahad, Ephrat ^c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^c SHAARE ZEDEK MEDICAL CENTER   (Israel)

^d CLALIT HEALTH SERVICES   (Israel)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LARS2 PROTEIN; LEUCINE TRANSFER RNA LIGASE; MITOCHONDRIAL ENZYME; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARAB; ARTICLE; AUDIOGRAPHY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CODON; CONSANGUINEOUS MARRIAGE; CONSENSUS SEQUENCE; ENZYME ACTIVE SITE; EXOME; FEMALE; GENE MUTATION; GENETIC COMPLEMENTATION; HETEROZYGOTE; HUMAN; KARYOTYPE 46,XX; MALE; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SLOVENIA; SYNDROME;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACYL-TRNA SYNTHETASES; CHILD; EXOME; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; LEUCINE-TRNA LIGASE; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID;

CAENORHABDITIS ELEGANS; MAMMALIA;

EID: 84875944446     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.03.007     Document Type: Article

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