Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

BMC Ear, Nose and Throat Disorders

Volumn 14, Issue 1, 2014, Pages

  Ji, Haiting ^a   Lu, Jingqiao ^b   Wang, Jianjun ^b   Li, Huawei ^a   Lin, Xi ^b  

^a FUDAN UNIVERSITY   (China)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Copy number variations; Deafness gene panel; Genetic deafness; Hearing; Next generation sequencing; Sequence mutations

Indexed keywords

CONNEXIN 26; CONNEXIN 31; DNA; MYOSIN VI; MYOSIN VIIA; PENDRIN; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR SOX2; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ARTICLE; CATSPER2 GENE; CDH23 GENE; COCH GENE; COL11A2 GENE; COL9A3 GENE; CONNEXIN 26 GENE; CONNEXIN 31 GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; DEAFNESS GENE; DFNA5 GENE; DFNB59 GENE; DIAPH1 GENE; DNA HYBRIDIZATION; DNA SEQUENCE; ERCC2 GENE; EXON; EYA4 GENE; GENE; GENE DELETION; GENE FUNCTION; GENETIC CODE; GENETIC DISORDER; GENETIC PROCEDURES; GRHL2 GENE; HEARING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LHX3 GENE; MAJOR CLINICAL STUDY; MTAP GENE; MYH14 GENE; MYO15A GENE; MYO1C GENE; MYO3A GENE; MYOSIN VI GENE; MYOSIN VIIA GENE; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; OTOA GENE; OTOR GENE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; QUANTITATIVE ASSAY; SLC26A11 GENE; SLC26A4 GENE; SOX2 GENE; STRC GENE; TMPRSS5 GENE; USH1C GENE;

EID: 84907994702     PISSN: None     EISSN: 14726815     Source Type: Journal    
DOI: 10.1186/1472-6815-14-9     Document Type: Article

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