Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

Molecular Genetics and Metabolism

Volumn 83, Issue 3, 2004, Pages 199-206

  Bykhovskaya, Yelena ^a   Mengesha, Emebet ^a   Wang, Dai ^a   Yang, Huiying ^a   Estivill, Xavier ^b   Shohat, Mordechai ^c   Fischel Ghodsian, Nathan ^a  

^a Medical Genetics Institute   (United States)

^b CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Candidate gene; Complex disease; Linkage; Linkage disequilibrium; Maternal inherited deafness; Mitochondrial RNA modification; Modifier gene; Simulation analysis

Indexed keywords

CADHERIN; ENZYME MTO1; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN 3; MITOCHONDRIAL ENZYME; MITOCHONDRIAL RNA; PROTOCADHERIN 15; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR B2M; TRANSFER RNA; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 8; CONTROLLED STUDY; ETHNOLOGY; EXTRACHROMOSOMAL INHERITANCE; FAMILY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 8; COMPUTER SIMULATION; DEAFNESS; DNA-BINDING PROTEINS; GENE COMPONENTS; GTP-BINDING PROTEINS; HUMANS; ISRAEL; ITALY; LINKAGE DISEQUILIBRIUM; MICROSATELLITE REPEATS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, RIBOSOMAL; SEQUENCE ANALYSIS, DNA; SPAIN; TRANSCRIPTION FACTORS;

EID: 8144221376     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.07.009     Document Type: Article

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