Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Woo, Hae Mi ^a   Park, Hong Joon ^b   Baek, Jeong In ^c   Park, Mi Hyun ^a   Kim, Un Kyung ^c   Sagong, Borum ^c   Koo, Soo Kyung ^a  

^a Korea National Institute of Health   (South Korea)

^b Soree Ear Clinic   (South Korea)

^c Kyungpook National University   (South Korea)

Author keywords

Hearing loss; Mutation; MYO15A; Whole exome sequencing

Indexed keywords

CONNEXIN 26; MYO15A PROTEIN; PENDRIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CODING; COMPUTER MODEL; COPY NUMBER VARIATION; EXOME; EXON; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; KOREA; PATHOGENICITY;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CONNEXINS; EXOME; GENES, RECESSIVE; GENETIC TESTING; GENETIC VARIATION; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; MYOSINS; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA;

EID: 84880184179     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-72     Document Type: Article

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