First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Journal of Human Genetics

Volumn 61, Issue 4, 2016, Pages 295-300

  Soldà, Giulia ^a   Caccia, Sonia ^b   Robusto, Michela ^a   Chiereghin, Chiara ^a   Castorina, Pierangela ^c   Ambrosetti, Umberto ^c,d   Duga, Stefano ^a   Asselta, Rosanna ^a  

^a HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIAL ENZYME; LEUCINE TRANSFER RNA LIGASE; AMINO ACID TRANSFER RNA LIGASE; C10ORF2 PROTEIN, HUMAN; CLPP PROTEIN, HUMAN; DNA HELICASE; ENDOPEPTIDASE CLP; HARS2 PROTEIN, HUMAN; HSD17B4 PROTEIN, HUMAN; LARS2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; PEROXISOMAL MULTIFUNCTIONAL PROTEIN 2;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; C10ORF2 GENE; CLPP GENE; ESCHERICHIA COLI; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HARS2 GENE; HSD17B4 GENE; HUMAN; ITALIAN (CITIZEN); LARS2 GENE; MALE; MISSENSE MUTATION; OVARY INSUFFICIENCY; PERRAULT SYNDROME; PHENOTYPE; GENETICS; HIGH THROUGHPUT SEQUENCING; ITALY; MUTATION; PATHOLOGY; PEDIGREE; PERCEPTION DEAFNESS; XX GONADAL DYSGENESIS;

AMINO ACYL-TRNA SYNTHETASES; DNA HELICASES; ENDOPEPTIDASE CLP; EXOME; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ITALY; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2;

EID: 84964994143     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.149     Document Type: Article

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