Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

European Journal of Human Genetics

Volumn 22, Issue 6, 2014, Pages 768-775

  Brownstein, Zippora ^a   Abu Rayyan, Amal ^b   Karfunkel Doron, Daphne ^a   Sirigu, Serena ^c   Davidov, Bella ^d   Shohat, Mordechai ^a,d   Frydman, Moshe ^a,e   Houdusse, Anne ^c   Kanaan, Moien ^b   Avraham, Karen B ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b BETHLEHEM UNIVERSITY   (Palestine)

^c CNRS   (France)

^d RABIN MEDICAL CENTER   (Israel)

^e GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

consanguinity; deafness; diagnosis; exome sequencing; next generation sequencing

Indexed keywords

MICRORNA; MOLECULAR MOTOR; MYOSIN; MYOSIN VI; MYOSIN VIIA; MYOSIN XVA; UNCLASSIFIED DRUG; MYO15A PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ADULT; ARAB; ARTICLE; BILATERAL HEARING LOSS; CONTROLLED STUDY; DIMERIZATION; FEMALE; GENE SEQUENCE; GENETIC DISORDER; GENETIC PROCEDURES; HEARING; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MASSIVELY PARALLEL SEQUENCING; MIDDLE AGED; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PALESTINIAN; PRIORITY JOURNAL; STOP CODON; TARGETED GENOMIC CAPTURE; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; ISRAEL; JEW; MUTATION; PEDIGREE; PHENOTYPE; PROCEDURES;

ARABS; BASE SEQUENCE; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HEARING LOSS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ISRAEL; JEWS; MALE; MUTATION; MYOSIN HEAVY CHAINS; MYOSINS; PEDIGREE; PHENOTYPE;

EID: 84900986859     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.232     Document Type: Article

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