MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Ballana, Ester ^a   Mercader, Josep Maria ^a,b   Fischel Ghodsian, Nathan ^c   Estivill, Xavier ^a,b,d,e  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CeGen Barcelona   (Spain)

^e UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MITOCHONDRIAL DNA; PROTEIN DEFA3; PROTEIN MRPS18CP2; RNA 12S; ALPHA DEFENSIN; RIBOSOME RNA; RNA, RIBOSOMAL, 12S; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 8P; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; CHROMOSOME 8; CHROMOSOME MAP; GENETICS; MULTIGENE FAMILY; MUTATION; PSEUDOGENE; SPAIN;

ALLELES; ALPHA-DEFENSINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MULTIGENE FAMILY; MUTATION; PSEUDOGENES; RNA, RIBOSOMAL; SPAIN;

EID: 38949132589     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-81     Document Type: Article

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